Canonical Allele Identifier: CA832112445
Gene: CFTR HGNC NCBI

Linked Data

dbSNP Id: rs1435236369

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479299C>T , CM000669.2:g.117479299C>T GRCh38
NC_000007.13:g.117119353C>T , CM000669.1:g.117119353C>T GRCh37
NC_000007.12:g.116906589C>T NCBI36
NG_016465.4:g.18516C>T , LRG_663:g.18516C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-470C>T ENSP00000417012.1:n.-470C>T
ENST00000673785.1:c.-406+13468C>T ENSP00000501235.1:n.-406+13468C>T
ENST00000546407.1:n.166+3491C>T
XM_011515751.1:c.97C>T XP_011514053.1:p.Leu33=
XM_011515752.1:c.97C>T XP_011514054.1:p.Leu33=
XM_011515754.1:c.-798C>T XP_011514056.1:n.-798C>T