Canonical Allele Identifier: CA832112631

Gene: CFTR

Linked Data

• dbSNP Id: rs1306897917
• gnomAD v4: 7-117479726-G-T
• MyVariant Identifiers: chr7:g.117119780G>T (hg19) ; chr7:g.117479726G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479726G>T , CM000669.2:g.117479726G>T	GRCh38
NC_000007.13:g.117119780G>T , CM000669.1:g.117119780G>T	GRCh37
NC_000007.12:g.116907016G>T	NCBI36
NG_016465.4:g.18943G>T , LRG_663:g.18943G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000446805.2:c.-191+32G>T	ENSP00000417012.1:n.-191+32G>T
ENST00000673785.1:c.-406+13895G>T	ENSP00000501235.1:n.-406+13895G>T
ENST00000446805.1:c.-191+32G>T	ENSP00000417012.1:n.-191+32G>T
ENST00000546407.1:n.166+3918G>T
XM_011515751.1:c.143+381G>T	XP_011514053.1:n.143+381G>T
XM_011515752.1:c.143+381G>T	XP_011514054.1:n.143+381G>T
XM_011515753.1:c.-191+32G>T	XP_011514055.1:n.-191+32G>T
XM_011515754.1:c.-519+32G>T	XP_011514056.1:n.-519+32G>T