Canonical Allele Identifier: CA4451493

Gene: CFTR

Linked Data

• ClinVar Variation Id: 1732372
• ClinVar RCV Id: RCV002459418
• dbSNP Id: rs771022957
• ExAC: 7:117267638 G / A
• gnomAD v4: 7-117627584-G-A
• MyVariant Identifiers: chr7:g.117267638G>A (hg19) ; chr7:g.117627584G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117627584G>A , CM000669.2:g.117627584G>A	GRCh38
NC_000007.13:g.117267638G>A , CM000669.1:g.117267638G>A	GRCh37
NC_000007.12:g.117054874G>A	NCBI36
NG_016465.4:g.166801G>A , LRG_663:g.166801G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000647720.2:c.3517+14G>A	ENSP00000497673.2:n.3517+14G>A
ENST00000647978.2:c.*3245G>A	ENSP00000497658.1:n.*3245G>A
ENST00000649781.2:c.3348G>A	ENSP00000497203.1:p.Lys1116=
ENST00000685018.2:c.3531G>A	ENSP00000510194.2:p.Lys1177=
ENST00000687278.2:c.*184G>A	ENSP00000509593.2:n.*184G>A
ENST00000699585.1:c.3517+14G>A	ENSP00000514456.1:n.3517+14G>A
ENST00000699598.1:c.3531G>A	ENSP00000514467.1:p.Lys1177=
ENST00000699599.1:c.3531G>A	ENSP00000514468.1:p.Lys1177=
ENST00000699600.1:c.*192G>A	ENSP00000514469.1:n.*192G>A
ENST00000699601.1:c.*1906G>A	ENSP00000514470.1:n.*1906G>A
ENST00000699602.1:c.3525G>A	ENSP00000514471.1:p.Lys1175=
ENST00000699604.1:c.*3355G>A	ENSP00000514472.1:n.*3355G>A
ENST00000699605.1:c.3105G>A	ENSP00000514473.1:p.Lys1035=
ENST00000685018.1:c.279G>A	ENSP00000510194.1:p.Lys93=
ENST00000687278.1:c.1318G>A	ENSP00000509593.1:n.1318G>A
ENST00000689011.1:c.113G>A
ENST00000003084.11:c.3531G>A MANE Select	ENSP00000003084.6:p.Lys1177=
ENST00000647720.1:c.1167+14G>A
ENST00000648260.1:c.2313G>A	ENSP00000497957.1:p.Lys771=
ENST00000649406.1:c.3348G>A	ENSP00000497965.1:p.Lys1116=
ENST00000649781.1:c.3348G>A	ENSP00000497203.1:p.Lys1116=
ENST00000003084.10:c.3531G>A	ENSP00000003084.6:p.Lys1177=
ENST00000426809.5:c.3441G>A	ENSP00000389119.1:p.Lys1147=
ENST00000468795.1:c.356G>A
NM_000492.3:c.3531G>A , LRG_663t1:c.3531G>A	NP_000483.3:p.Lys1177=
XM_011515751.1:c.3621G>A	XP_011514053.1:p.Lys1207=
XM_011515752.1:c.3621G>A	XP_011514054.1:p.Lys1207=
XM_011515753.1:c.3288G>A	XP_011514055.1:p.Lys1096=
XM_011515754.1:c.3288G>A	XP_011514056.1:p.Lys1096=
NM_000492.4:c.3531G>A MANE Select	NP_000483.3:p.Lys1177=