Canonical Allele Identifier: CA1106299953

Gene: CFTR

Linked Data

• dbSNP Id: rs1797945761
• gnomAD v3: 7-117479305-A-C
• gnomAD v4: 7-117479305-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479305A>C , CM000669.2:g.117479305A>C	GRCh38
NC_000007.13:g.117119359A>C , CM000669.1:g.117119359A>C	GRCh37
NC_000007.12:g.116906595A>C	NCBI36
NG_016465.4:g.18522A>C , LRG_663:g.18522A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-464A>C	ENSP00000417012.1:n.-464A>C
ENST00000673785.1:c.-406+13474A>C	ENSP00000501235.1:n.-406+13474A>C
ENST00000446805.1:c.-464A>C	ENSP00000417012.1:n.-464A>C
ENST00000546407.1:n.166+3497A>C
XM_011515751.1:c.103A>C	XP_011514053.1:p.Lys35Gln
XM_011515752.1:c.103A>C	XP_011514054.1:p.Lys35Gln
XM_011515753.1:c.-464A>C	XP_011514055.1:n.-464A>C
XM_011515754.1:c.-792A>C	XP_011514056.1:n.-792A>C