Canonical Allele Identifier: CA164948632
Gene: CFTR HGNC NCBI

Linked Data

ClinVar Variation Id: 1132414
dbSNP Id: rs982968807

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479861T>A , CM000669.2:g.117479861T>A GRCh38
NC_000007.13:g.117119915T>A , CM000669.1:g.117119915T>A GRCh37
NC_000007.12:g.116907151T>A NCBI36
NG_016465.4:g.19078T>A , LRG_663:g.19078T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-191+167T>A ENSP00000417012.1:n.-191+167T>A
ENST00000673785.1:c.-406+14030T>A ENSP00000501235.1:n.-406+14030T>A
ENST00000446805.1:c.-191+167T>A ENSP00000417012.1:n.-191+167T>A
ENST00000546407.1:n.166+4053T>A
XM_011515751.1:c.143+516T>A XP_011514053.1:n.143+516T>A
XM_011515752.1:c.143+516T>A XP_011514054.1:n.143+516T>A
XM_011515753.1:c.-191+167T>A XP_011514055.1:n.-191+167T>A
XM_011515754.1:c.-519+167T>A XP_011514056.1:n.-519+167T>A