Canonical Allele Identifier: CA832112447

Gene: CFTR

Linked Data

• dbSNP Id: rs1323007400
• gnomAD v3: 7-117479304-A-G
• gnomAD v4: 7-117479304-A-G
• MyVariant Identifiers: chr7:g.117119358A>G (hg19) ; chr7:g.117479304A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479304A>G , CM000669.2:g.117479304A>G	GRCh38
NC_000007.13:g.117119358A>G , CM000669.1:g.117119358A>G	GRCh37
NC_000007.12:g.116906594A>G	NCBI36
NG_016465.4:g.18521A>G , LRG_663:g.18521A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-465A>G	ENSP00000417012.1:n.-465A>G
ENST00000673785.1:c.-406+13473A>G	ENSP00000501235.1:n.-406+13473A>G
ENST00000446805.1:c.-465A>G	ENSP00000417012.1:n.-465A>G
ENST00000546407.1:n.166+3496A>G
XM_011515751.1:c.102A>G	XP_011514053.1:p.Ile34Met
XM_011515752.1:c.102A>G	XP_011514054.1:p.Ile34Met
XM_011515753.1:c.-465A>G	XP_011514055.1:n.-465A>G
XM_011515754.1:c.-793A>G	XP_011514056.1:n.-793A>G