Canonical Allele Identifier: CA368991973

Gene: CFTR

Linked Data

• dbSNP Id: rs142394380
• gnomAD v3: 7-117611622-G-A
• gnomAD v4: 7-117611622-G-A
• MyVariant Identifiers: chr7:g.117251676G>A (hg19) ; chr7:g.117611622G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117611622G>A , CM000669.2:g.117611622G>A	GRCh38
NC_000007.13:g.117251676G>A , CM000669.1:g.117251676G>A	GRCh37
NC_000007.12:g.117038912G>A	NCBI36
NG_016465.4:g.150839G>A , LRG_663:g.150839G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000647720.2:c.3181G>A	ENSP00000497673.2:p.Gly1061Arg
ENST00000647978.2:c.*2895G>A	ENSP00000497658.1:n.*2895G>A
ENST00000649781.2:c.2998G>A	ENSP00000497203.1:p.Gly1000Arg
ENST00000685018.2:c.3181G>A	ENSP00000510194.2:p.Gly1061Arg
ENST00000687278.2:c.3181G>A	ENSP00000509593.2:p.Gly1061Arg
ENST00000699585.1:c.3181G>A	ENSP00000514456.1:p.Gly1061Arg
ENST00000699598.1:c.3181G>A	ENSP00000514467.1:p.Gly1061Arg
ENST00000699599.1:c.3181G>A	ENSP00000514468.1:p.Gly1061Arg
ENST00000699600.1:c.3181G>A	ENSP00000514469.1:p.Gly1061Arg
ENST00000699601.1:c.*1481G>A	ENSP00000514470.1:n.*1481G>A
ENST00000699602.1:c.3181G>A	ENSP00000514471.1:p.Gly1061Arg
ENST00000699604.1:c.*3005G>A	ENSP00000514472.1:n.*3005G>A
ENST00000699605.1:c.2755G>A	ENSP00000514473.1:p.Gly919Arg
ENST00000687278.1:c.772G>A	ENSP00000509593.1:p.Gly258Arg
ENST00000003084.11:c.3181G>A MANE Select	ENSP00000003084.6:p.Gly1061Arg
ENST00000647720.1:c.831G>A
ENST00000648260.1:c.1963G>A	ENSP00000497957.1:p.Gly655Arg
ENST00000649406.1:c.2998G>A	ENSP00000497965.1:p.Gly1000Arg
ENST00000649781.1:c.2998G>A	ENSP00000497203.1:p.Gly1000Arg
ENST00000003084.10:c.3181G>A	ENSP00000003084.6:p.Gly1061Arg
ENST00000426809.5:c.3091G>A	ENSP00000389119.1:p.Gly1031Arg
ENST00000468795.1:c.6G>A
NM_000492.3:c.3181G>A , LRG_663t1:c.3181G>A	NP_000483.3:p.Gly1061Arg
XM_011515751.1:c.3271G>A	XP_011514053.1:p.Gly1091Arg
XM_011515752.1:c.3271G>A	XP_011514054.1:p.Gly1091Arg
XM_011515753.1:c.2938G>A	XP_011514055.1:p.Gly980Arg
XM_011515754.1:c.2938G>A	XP_011514056.1:p.Gly980Arg
NM_000492.4:c.3181G>A MANE Select	NP_000483.3:p.Gly1061Arg