Canonical Allele Identifier: CA9076998

Gene: CELF5

Linked Data

• ClinVar Variation Id: 373408
• ClinVar RCV Id: RCV000414485
• dbSNP Id: rs775741979
• ExAC: 19:3284951 A / C
• gnomAD v2: 19-3284951-A-C
• gnomAD v3: 19-3284953-A-C
• gnomAD v4: 19-3284953-A-C
• MyVariant Identifiers: chr19:g.3284951A>C (hg19) ; chr19:g.3284953A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000019.10:g.3284953A>C , CM000681.2:g.3284953A>C	GRCh38
NC_000019.9:g.3284951A>C , CM000681.1:g.3284951A>C	GRCh37
NC_000019.8:g.3235951A>C	NCBI36
NG_052949.1:g.65251A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000292672.7:c.1091A>C MANE Select	ENSP00000292672.1:p.Gln364Pro
ENST00000292672.6:c.1091A>C	ENSP00000292672.1:p.Gln364Pro
ENST00000334293.10:c.749A>C	ENSP00000335182.6:p.Gln250Pro
ENST00000541430.6:c.1016A>C	ENSP00000443498.1:p.Gln339Pro
ENST00000586050.5:n.373A>C
ENST00000588101.5:n.210A>C
ENST00000588350.1:c.674A>C	ENSP00000468503.1:p.Gln225Pro
ENST00000591483.1:n.192A>C
NM_001172673.1:c.1016A>C	NP_001166144.1:p.Gln339Pro
NM_021938.3:c.1091A>C	NP_068757.2:p.Gln364Pro
NR_033342.1:n.966A>C
XM_006722832.1:c.1091A>C	XP_006722895.1:p.Gln364Pro
XM_006722833.1:c.1088A>C	XP_006722896.1:p.Gln363Pro
XM_006722834.1:c.1091A>C	XP_006722897.1:p.Gln364Pro
XM_006722836.2:c.782A>C	XP_006722899.1:p.Gln261Pro
XM_006722837.2:c.749A>C	XP_006722900.1:p.Gln250Pro
XM_006722838.2:c.749A>C	XP_006722901.1:p.Gln250Pro
XM_011528173.1:c.749A>C	XP_011526475.1:p.Gln250Pro
XM_011528174.1:c.746A>C	XP_011526476.1:p.Gln249Pro
XM_011528175.1:c.1088A>C	XP_011526477.1:p.Gln363Pro
XR_430147.1:n.1155A>C
XR_430148.2:n.1064A>C
XM_006722837.4:c.749A>C	XP_006722900.1:p.Gln250Pro
XM_006722838.4:c.749A>C	XP_006722901.1:p.Gln250Pro
XM_011528174.3:c.746A>C	XP_011526476.1:p.Gln249Pro
XM_017027111.1:c.674A>C	XP_016882600.1:p.Gln225Pro
XR_001753733.1:n.1155A>C
NM_021938.4:c.1091A>C MANE Select	NP_068757.2:p.Gln364Pro
NM_001172673.2:c.1016A>C	NP_001166144.1:p.Gln339Pro
NR_033342.2:n.1173A>C