Canonical Allele Identifier: CA164948736

Gene: CFTR

Linked Data

• dbSNP Id: rs568368314
• gnomAD v3: 7-117479982-C-G
• gnomAD v4: 7-117479982-C-G
• MyVariant Identifiers: chr7:g.117120036C>G (hg19) ; chr7:g.117479982C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479982C>G , CM000669.2:g.117479982C>G	GRCh38
NC_000007.13:g.117120036C>G , CM000669.1:g.117120036C>G	GRCh37
NC_000007.12:g.116907272C>G	NCBI36
NG_016465.4:g.19199C>G , LRG_663:g.19199C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+288C>G	ENSP00000417012.1:n.-191+288C>G
ENST00000673785.1:c.-406+14151C>G	ENSP00000501235.1:n.-406+14151C>G
ENST00000003084.10:c.-113C>G	ENSP00000003084.6:n.-113C>G
ENST00000446805.1:c.-191+288C>G	ENSP00000417012.1:n.-191+288C>G
ENST00000546407.1:n.166+4174C>G
NM_000492.3:c.-113C>G , LRG_663t1:c.-113C>G	NP_000483.3:n.-113C>G
XM_011515751.1:c.143+637C>G	XP_011514053.1:n.143+637C>G
XM_011515752.1:c.143+637C>G	XP_011514054.1:n.143+637C>G
XM_011515753.1:c.-191+288C>G	XP_011514055.1:n.-191+288C>G
XM_011515754.1:c.-518-166C>G	XP_011514056.1:n.-518-166C>G