Canonical Allele Identifier: CA368974691

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1043097
• ClinVar RCV Id: RCV001347155
• dbSNP Id: rs773852510
• MyVariant Identifiers: chr7:g.117282541C>G (hg19) ; chr7:g.117642487C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117642487C>G , CM000669.2:g.117642487C>G	GRCh38
NC_000007.13:g.117282541C>G , CM000669.1:g.117282541C>G	GRCh37
NC_000007.12:g.117069777C>G	NCBI36
NG_016465.4:g.181704C>G , LRG_663:g.181704C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3567C>G	ENSP00000497673.2:p.Ser1189Arg
ENST00000647978.2:c.*3481C>G	ENSP00000497658.1:n.*3481C>G
ENST00000649781.2:c.3584C>G	ENSP00000497203.1:p.Ala1195Gly
ENST00000685018.2:c.3767C>G	ENSP00000510194.2:p.Ala1256Gly
ENST00000687278.2:c.*420C>G	ENSP00000509593.2:n.*420C>G
ENST00000699585.1:c.3567C>G	ENSP00000514456.1:p.Ser1189Arg
ENST00000699598.1:c.3767C>G	ENSP00000514467.1:p.Ala1256Gly
ENST00000699599.1:c.3767C>G	ENSP00000514468.1:p.Ala1256Gly
ENST00000699600.1:c.*428C>G	ENSP00000514469.1:n.*428C>G
ENST00000699601.1:c.*2142C>G	ENSP00000514470.1:n.*2142C>G
ENST00000699602.1:c.3761C>G	ENSP00000514471.1:p.Ala1254Gly
ENST00000699604.1:c.*3591C>G	ENSP00000514472.1:n.*3591C>G
ENST00000699605.1:c.3341C>G	ENSP00000514473.1:p.Ala1114Gly
ENST00000685018.1:c.515C>G	ENSP00000510194.1:p.Ala172Gly
ENST00000687278.1:c.1554C>G	ENSP00000509593.1:n.1554C>G
ENST00000689011.1:c.349C>G
ENST00000003084.11:c.3767C>G MANE Select	ENSP00000003084.6:p.Ala1256Gly
ENST00000647720.1:c.1217C>G
ENST00000649781.1:c.3584C>G	ENSP00000497203.1:p.Ala1195Gly
ENST00000003084.10:c.3767C>G	ENSP00000003084.6:p.Ala1256Gly
ENST00000426809.5:c.3677C>G	ENSP00000389119.1:p.Ala1226Gly
NM_000492.3:c.3767C>G , LRG_663t1:c.3767C>G	NP_000483.3:p.Ala1256Gly
XM_011515751.1:c.3857C>G	XP_011514053.1:p.Ala1286Gly
XM_011515752.1:c.3857C>G	XP_011514054.1:p.Ala1286Gly
XM_011515753.1:c.3524C>G	XP_011514055.1:p.Ala1175Gly
XM_011515754.1:c.3524C>G	XP_011514056.1:p.Ala1175Gly
NM_000492.4:c.3767C>G MANE Select	NP_000483.3:p.Ala1256Gly