Canonical Allele Identifier: CA164948048
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs760003027

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117478855C>T , CM000669.2:g.117478855C>T GRCh38
NC_000007.13:g.117118909C>T , CM000669.1:g.117118909C>T GRCh37
NC_000007.12:g.116906145C>T NCBI36
NG_016465.4:g.18072C>T , LRG_663:g.18072C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-389C>T ENSP00000417012.1:n.-525-389C>T
ENST00000673785.1:c.-406+13024C>T ENSP00000501235.1:n.-406+13024C>T
ENST00000546407.1:n.166+3047C>T
XM_011515751.1:c.42-389C>T XP_011514053.1:n.42-389C>T
XM_011515752.1:c.42-389C>T XP_011514054.1:n.42-389C>T
XM_011515754.1:c.-1242C>T XP_011514056.1:n.-1242C>T