Canonical Allele Identifier: CA577211742

Gene: CFTR

Linked Data

• dbSNP Id: rs1394448599
• gnomAD v2: 7-117119956-G-A
• gnomAD v3: 7-117479902-G-A
• gnomAD v4: 7-117479902-G-A
• MyVariant Identifiers: chr7:g.117119956G>A (hg19) ; chr7:g.117479902G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479902G>A , CM000669.2:g.117479902G>A	GRCh38
NC_000007.13:g.117119956G>A , CM000669.1:g.117119956G>A	GRCh37
NC_000007.12:g.116907192G>A	NCBI36
NG_016465.4:g.19119G>A , LRG_663:g.19119G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-191+208G>A	ENSP00000417012.1:n.-191+208G>A
ENST00000673785.1:c.-406+14071G>A	ENSP00000501235.1:n.-406+14071G>A
ENST00000446805.1:c.-191+208G>A	ENSP00000417012.1:n.-191+208G>A
ENST00000546407.1:n.166+4094G>A
XM_011515751.1:c.143+557G>A	XP_011514053.1:n.143+557G>A
XM_011515752.1:c.143+557G>A	XP_011514054.1:n.143+557G>A
XM_011515753.1:c.-191+208G>A	XP_011514055.1:n.-191+208G>A
XM_011515754.1:c.-519+208G>A	XP_011514056.1:n.-519+208G>A