Canonical Allele Identifier: CA1106299705

Gene: CFTR

Linked Data

• dbSNP Id: rs1797928182
• gnomAD v3: 7-117478740-T-C
• gnomAD v4: 7-117478740-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478740T>C , CM000669.2:g.117478740T>C	GRCh38
NC_000007.13:g.117118794T>C , CM000669.1:g.117118794T>C	GRCh37
NC_000007.12:g.116906030T>C	NCBI36
NG_016465.4:g.17957T>C , LRG_663:g.17957T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-526+318T>C	ENSP00000417012.1:n.-526+318T>C
ENST00000673785.1:c.-406+12909T>C	ENSP00000501235.1:n.-406+12909T>C
ENST00000546407.1:n.166+2932T>C
XM_011515751.1:c.41+318T>C	XP_011514053.1:n.41+318T>C
XM_011515752.1:c.41+318T>C	XP_011514054.1:n.41+318T>C
XM_011515754.1:c.-1357T>C	XP_011514056.1:n.-1357T>C