Canonical Allele Identifier: CA651906953
Gene: CFTR HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479088A>T , CM000669.2:g.117479088A>T GRCh38
NC_000007.13:g.117119142A>T , CM000669.1:g.117119142A>T GRCh37
NC_000007.12:g.116906378A>T NCBI36
NG_016465.4:g.18305A>T , LRG_663:g.18305A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000446805.2:c.-525-156A>T ENSP00000417012.1:n.-525-156A>T
ENST00000673785.1:c.-406+13257A>T ENSP00000501235.1:n.-406+13257A>T
ENST00000546407.1:n.166+3280A>T
XM_011515751.1:c.42-156A>T XP_011514053.1:n.42-156A>T
XM_011515752.1:c.42-156A>T XP_011514054.1:n.42-156A>T
XM_011515754.1:c.-1009A>T XP_011514056.1:n.-1009A>T