Canonical Allele Identifier: CA2825001511

Gene: CFTR

Linked Data

• ClinVar Variation Id: 3076101
• ClinVar RCV Id: RCV004018418

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.117479529A>G , CM000669.2:g.117479529A>G	GRCh38
NC_000007.13:g.117119583A>G , CM000669.1:g.117119583A>G	GRCh37
NC_000007.12:g.116906819A>G	NCBI36
NG_016465.4:g.18746A>G , LRG_663:g.18746A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000446805.2:c.-356A>G	ENSP00000417012.1:n.-356A>G
ENST00000673785.1:c.-406+13698A>G	ENSP00000501235.1:n.-406+13698A>G
ENST00000446805.1:c.-356A>G	ENSP00000417012.1:n.-356A>G
ENST00000546407.1:n.166+3721A>G
XM_011515751.1:c.143+184A>G	XP_011514053.1:n.143+184A>G
XM_011515752.1:c.143+184A>G	XP_011514054.1:n.143+184A>G
XM_011515753.1:c.-356A>G	XP_011514055.1:n.-356A>G
XM_011515754.1:c.-684A>G	XP_011514056.1:n.-684A>G