Canonical Allele Identifier: CA832112658

Gene: CFTR

Linked Data

• dbSNP Id: rs1387981861
• gnomAD v3: 7-117479809-G-C
• gnomAD v4: 7-117479809-G-C
• MyVariant Identifiers: chr7:g.117119863G>C (hg19) ; chr7:g.117479809G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479809G>C , CM000669.2:g.117479809G>C	GRCh38
NC_000007.13:g.117119863G>C , CM000669.1:g.117119863G>C	GRCh37
NC_000007.12:g.116907099G>C	NCBI36
NG_016465.4:g.19026G>C , LRG_663:g.19026G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+115G>C	ENSP00000417012.1:n.-191+115G>C
ENST00000673785.1:c.-406+13978G>C	ENSP00000501235.1:n.-406+13978G>C
ENST00000446805.1:c.-191+115G>C	ENSP00000417012.1:n.-191+115G>C
ENST00000546407.1:n.166+4001G>C
XM_011515751.1:c.143+464G>C	XP_011514053.1:n.143+464G>C
XM_011515752.1:c.143+464G>C	XP_011514054.1:n.143+464G>C
XM_011515753.1:c.-191+115G>C	XP_011514055.1:n.-191+115G>C
XM_011515754.1:c.-519+115G>C	XP_011514056.1:n.-519+115G>C