Canonical Allele Identifier: CA2844623721
Gene: CFTR HGNC NCBI

Genomic Alleles

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

Transcript Alleles

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