Canonical Allele Identifier: CA350274729

Gene: CFLAR CFLAR-AS1

Linked Data

• ClinVar Variation Id: 2619452
• ClinVar RCV Id: RCV004363227
• gnomAD v4: 2-201140405-A-C
• MyVariant Identifiers: chr2:g.202005128A>C (hg19) ; chr2:g.201140405A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.201140405A>C , CM000664.2:g.201140405A>C	GRCh38
NC_000002.11:g.202005128A>C , CM000664.1:g.202005128A>C	GRCh37
NC_000002.10:g.201713373A>C	NCBI36
NG_029005.1:g.29252A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309955.8:c.572A>C (CFLAR) MANE Select	ENSP00000312455.2:p.Gln191Pro
ENST00000309955.7:c.572A>C (CFLAR)	ENSP00000312455.2:p.Gln191Pro
ENST00000340870.6:c.284A>C (CFLAR)	ENSP00000339326.6:p.Gln95Pro
ENST00000341222.10:c.572A>C (CFLAR)	ENSP00000339335.6:p.Gln191Pro
ENST00000341582.10:c.572A>C (CFLAR)	ENSP00000345807.6:p.Gln191Pro
ENST00000342795.9:c.572A>C (CFLAR)	ENSP00000342809.5:p.Gln191Pro
ENST00000423241.6:c.572A>C (CFLAR)	ENSP00000399420.2:p.Gln191Pro
ENST00000439154.6:c.572A>C (CFLAR)	ENSP00000398551.2:p.Gln191Pro
ENST00000440180.5:c.572A>C (CFLAR)	ENSP00000406775.1:p.Gln191Pro
ENST00000443227.5:c.284A>C (CFLAR)	ENSP00000413270.1:p.Gln95Pro
ENST00000457277.5:c.572A>C (CFLAR)	ENSP00000411535.1:p.Gln191Pro
ENST00000461422.1:n.461A>C (CFLAR)
ENST00000462763.5:c.284A>C (CFLAR)	ENSP00000469917.1:p.Gln95Pro
ENST00000470178.6:c.284A>C (CFLAR)	ENSP00000471749.1:p.Gln95Pro
ENST00000474842.1:n.220A>C (CFLAR)
ENST00000479953.6:c.284A>C (CFLAR)	ENSP00000471805.1:p.Gln95Pro
ENST00000494258.5:c.284A>C (CFLAR)	ENSP00000469608.1:p.Gln95Pro
NM_001127183.2:c.572A>C (CFLAR)	NP_001120655.1:p.Gln191Pro
NM_001127184.2:c.572A>C (CFLAR)	NP_001120656.1:p.Gln191Pro
NM_001202515.1:c.-164A>C (CFLAR)	NP_001189444.1:n.-164A>C
NM_001202516.1:c.572A>C (CFLAR)	NP_001189445.1:p.Gln191Pro
NM_001202517.1:c.284A>C (CFLAR)	NP_001189446.1:p.Gln95Pro
NM_001202518.1:c.284A>C (CFLAR)	NP_001189447.1:p.Gln95Pro
NM_001202519.1:c.284A>C (CFLAR)	NP_001189448.1:p.Gln95Pro
NM_001308042.1:c.572A>C (CFLAR)	NP_001294971.1:p.Gln191Pro
NM_003879.5:c.572A>C (CFLAR)	NP_003870.4:p.Gln191Pro
NR_040030.1:n.925T>G (CFLAR-AS1)
XM_011512100.1:c.572A>C (CFLAR)	XP_011510402.1:p.Gln191Pro
NM_001127183.3:c.572A>C (CFLAR)	NP_001120655.1:p.Gln191Pro
NM_001127184.3:c.572A>C (CFLAR)	NP_001120656.1:p.Gln191Pro
NM_001202516.2:c.572A>C (CFLAR)	NP_001189445.1:p.Gln191Pro
NM_001202517.2:c.284A>C (CFLAR)	NP_001189446.1:p.Gln95Pro
NM_001202519.2:c.284A>C (CFLAR)	NP_001189448.1:p.Gln95Pro
NM_001308042.2:c.572A>C (CFLAR)	NP_001294971.1:p.Gln191Pro
NM_001351590.1:c.572A>C (CFLAR)	NP_001338519.1:p.Gln191Pro
NM_001351591.1:c.572A>C (CFLAR)	NP_001338520.1:p.Gln191Pro
NM_001351592.1:c.572A>C (CFLAR)	NP_001338521.1:p.Gln191Pro
NM_001351593.1:c.284A>C (CFLAR)	NP_001338522.1:p.Gln95Pro
NM_001351594.1:c.284A>C (CFLAR)	NP_001338523.1:p.Gln95Pro
NM_003879.6:c.572A>C (CFLAR)	NP_003870.4:p.Gln191Pro
NR_147241.1:n.669A>C (CFLAR)
NR_147242.1:n.669A>C (CFLAR)
NR_147243.1:n.1087A>C (CFLAR)
NR_147244.1:n.1087A>C (CFLAR)
NR_147245.1:n.1087A>C (CFLAR)
NR_147246.1:n.948A>C (CFLAR)
NR_147247.1:n.1087A>C (CFLAR)
NR_147248.1:n.669A>C (CFLAR)
NR_147249.1:n.669A>C (CFLAR)
NR_147250.1:n.1038+4298A>C (CFLAR)
NR_147251.1:n.1087A>C (CFLAR)
NR_147253.1:n.1120A>C (CFLAR)
NR_147255.1:n.702A>C (CFLAR)
XM_017005189.2:c.572A>C (CFLAR)	XP_016860678.1:p.Gln191Pro
XM_017005190.2:c.572A>C (CFLAR)	XP_016860679.1:p.Gln191Pro
XM_017005191.2:c.572A>C (CFLAR)	XP_016860680.1:p.Gln191Pro
XM_017005193.2:c.572A>C (CFLAR)	XP_016860682.1:p.Gln191Pro
XM_017005195.2:c.284A>C (CFLAR)	XP_016860684.1:p.Gln95Pro
XR_001739013.2:n.1025A>C (CFLAR)
XR_001739016.2:n.3045A>C (CFLAR)
XR_001739017.2:n.3792A>C (CFLAR)
XR_001739018.1:n.5812A>C (CFLAR)
XR_002959354.1:n.968+4298A>C (CFLAR)
XR_002959355.1:n.609A>C (CFLAR)
NM_003879.7:c.572A>C (CFLAR) MANE Select	NP_003870.4:p.Gln191Pro
NM_001127183.4:c.572A>C (CFLAR)	NP_001120655.1:p.Gln191Pro
NM_001202516.3:c.572A>C (CFLAR)	NP_001189445.1:p.Gln191Pro
NM_001202517.3:c.284A>C (CFLAR)	NP_001189446.1:p.Gln95Pro
NM_001202518.2:c.284A>C (CFLAR)	NP_001189447.1:p.Gln95Pro
NM_001202519.3:c.284A>C (CFLAR)	NP_001189448.1:p.Gln95Pro
NM_001308042.3:c.572A>C (CFLAR)	NP_001294971.1:p.Gln191Pro
NM_001351590.2:c.572A>C (CFLAR)	NP_001338519.1:p.Gln191Pro
NM_001351593.2:c.284A>C (CFLAR)	NP_001338522.1:p.Gln95Pro
NM_001351594.2:c.284A>C (CFLAR)	NP_001338523.1:p.Gln95Pro
NR_147242.2:n.609A>C (CFLAR)
NR_147243.2:n.1027A>C (CFLAR)
NR_147244.2:n.1027A>C (CFLAR)
NR_147245.2:n.1027A>C (CFLAR)
NR_147246.2:n.888A>C (CFLAR)
NR_147247.2:n.1027A>C (CFLAR)
NR_147248.2:n.609A>C (CFLAR)
NR_147249.2:n.609A>C (CFLAR)
NR_147250.2:n.978+4298A>C (CFLAR)
NR_147251.2:n.1027A>C (CFLAR)
NR_147253.2:n.895A>C (CFLAR)
NM_001127184.4:c.572A>C (CFLAR)	NP_001120656.1:p.Gln191Pro
NM_001351591.2:c.572A>C (CFLAR)	NP_001338520.1:p.Gln191Pro
NM_001351592.2:c.572A>C (CFLAR)	NP_001338521.1:p.Gln191Pro
NR_147241.2:n.609A>C (CFLAR)
NR_147255.2:n.477A>C (CFLAR)