Canonical Allele Identifier: CA1737344407
Gene: CFTR HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.117479946T= , CM000669.2:g.117479946T= GRCh38
NC_000007.13:g.117120000T= , CM000669.1:g.117120000T= GRCh37
NC_000007.12:g.116907236T= NCBI36
NG_016465.4:g.19163T= , LRG_663:g.19163T=

Transcript Alleles

HGVS Amino-acid change
ENST00000446805.2:c.-191+252T= ENSP00000417012.1:n.-191+252T=
ENST00000673785.1:c.-406+14115T= ENSP00000501235.1:n.-406+14115T=
ENST00000446805.1:c.-191+252T= ENSP00000417012.1:n.-191+252T=
ENST00000546407.1:n.166+4138T=
XM_011515751.1:c.143+601T= XP_011514053.1:n.143+601T=
XM_011515752.1:c.143+601T= XP_011514054.1:n.143+601T=
XM_011515753.1:c.-191+252T= XP_011514055.1:n.-191+252T=
XM_011515754.1:c.-518-202T= XP_011514056.1:n.-518-202T=