Canonical Allele Identifier: CA368993625

Gene: CFTR

Linked Data

• dbSNP Id: rs1202489121
• gnomAD v2: 7-117254739-T-A
• gnomAD v4: 7-117614685-T-A
• MyVariant Identifiers: chr7:g.117254739T>A (hg19) ; chr7:g.117614685T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117614685T>A , CM000669.2:g.117614685T>A	GRCh38
NC_000007.13:g.117254739T>A , CM000669.1:g.117254739T>A	GRCh37
NC_000007.12:g.117041975T>A	NCBI36
NG_016465.4:g.153902T>A , LRG_663:g.153902T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3440T>A	ENSP00000497673.2:p.Val1147Glu
ENST00000647978.2:c.*3154T>A	ENSP00000497658.1:n.*3154T>A
ENST00000649781.2:c.3257T>A	ENSP00000497203.1:p.Val1086Glu
ENST00000685018.2:c.3440T>A	ENSP00000510194.2:p.Val1147Glu
ENST00000687278.2:c.3440T>A	ENSP00000509593.2:p.Val1147Glu
ENST00000699585.1:c.3440T>A	ENSP00000514456.1:p.Val1147Glu
ENST00000699598.1:c.3440T>A	ENSP00000514467.1:p.Val1147Glu
ENST00000699599.1:c.3440T>A	ENSP00000514468.1:p.Val1147Glu
ENST00000699600.1:c.3440T>A	ENSP00000514469.1:p.Val1147Glu
ENST00000699601.1:c.*1815T>A	ENSP00000514470.1:n.*1815T>A
ENST00000699602.1:c.3434T>A	ENSP00000514471.1:p.Val1145Glu
ENST00000699604.1:c.*3264T>A	ENSP00000514472.1:n.*3264T>A
ENST00000699605.1:c.3014T>A	ENSP00000514473.1:p.Val1005Glu
ENST00000685018.1:c.188T>A	ENSP00000510194.1:p.Val63Glu
ENST00000687278.1:c.1031T>A	ENSP00000509593.1:p.Val344Glu
ENST00000689011.1:c.22T>A
ENST00000003084.11:c.3440T>A MANE Select	ENSP00000003084.6:p.Val1147Glu
ENST00000647720.1:c.1090T>A
ENST00000648260.1:c.2222T>A	ENSP00000497957.1:p.Val741Glu
ENST00000649406.1:c.3257T>A	ENSP00000497965.1:p.Val1086Glu
ENST00000649781.1:c.3257T>A	ENSP00000497203.1:p.Val1086Glu
ENST00000003084.10:c.3440T>A	ENSP00000003084.6:p.Val1147Glu
ENST00000426809.5:c.3350T>A	ENSP00000389119.1:p.Val1117Glu
ENST00000468795.1:c.265T>A
NM_000492.3:c.3440T>A , LRG_663t1:c.3440T>A	NP_000483.3:p.Val1147Glu
XM_011515751.1:c.3530T>A	XP_011514053.1:p.Val1177Glu
XM_011515752.1:c.3530T>A	XP_011514054.1:p.Val1177Glu
XM_011515753.1:c.3197T>A	XP_011514055.1:p.Val1066Glu
XM_011515754.1:c.3197T>A	XP_011514056.1:p.Val1066Glu
NM_000492.4:c.3440T>A MANE Select	NP_000483.3:p.Val1147Glu