Canonical Allele Identifier: CA832112258

Gene: CFTR

Linked Data

• dbSNP Id: rs1355921322
• gnomAD v3: 7-117478993-C-G
• gnomAD v4: 7-117478993-C-G
• MyVariant Identifiers: chr7:g.117119047C>G (hg19) ; chr7:g.117478993C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478993C>G , CM000669.2:g.117478993C>G	GRCh38
NC_000007.13:g.117119047C>G , CM000669.1:g.117119047C>G	GRCh37
NC_000007.12:g.116906283C>G	NCBI36
NG_016465.4:g.18210C>G , LRG_663:g.18210C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-525-251C>G	ENSP00000417012.1:n.-525-251C>G
ENST00000673785.1:c.-406+13162C>G	ENSP00000501235.1:n.-406+13162C>G
ENST00000546407.1:n.166+3185C>G
XM_011515751.1:c.42-251C>G	XP_011514053.1:n.42-251C>G
XM_011515752.1:c.42-251C>G	XP_011514054.1:n.42-251C>G
XM_011515754.1:c.-1104C>G	XP_011514056.1:n.-1104C>G