Canonical Allele Identifier: CA577211596

Gene: CFTR

Linked Data

• dbSNP Id: rs1207485819
• gnomAD v2: 7-117118788-C-T
• gnomAD v3: 7-117478734-C-T
• gnomAD v4: 7-117478734-C-T
• MyVariant Identifiers: chr7:g.117118788C>T (hg19) ; chr7:g.117478734C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117478734C>T , CM000669.2:g.117478734C>T	GRCh38
NC_000007.13:g.117118788C>T , CM000669.1:g.117118788C>T	GRCh37
NC_000007.12:g.116906024C>T	NCBI36
NG_016465.4:g.17951C>T , LRG_663:g.17951C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-526+312C>T	ENSP00000417012.1:n.-526+312C>T
ENST00000673785.1:c.-406+12903C>T	ENSP00000501235.1:n.-406+12903C>T
ENST00000546407.1:n.166+2926C>T
XM_011515751.1:c.41+312C>T	XP_011514053.1:n.41+312C>T
XM_011515752.1:c.41+312C>T	XP_011514054.1:n.41+312C>T
XM_011515754.1:c.-1363C>T	XP_011514056.1:n.-1363C>T