Canonical Allele Identifier: CA647006887

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877707-G-A
• COSMIC: COSN22477165

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877707G>A , CM000664.2:g.43877707G>A	GRCh38
NC_000002.11:g.44104846G>A , CM000664.1:g.44104846G>A	GRCh37
NC_000002.10:g.43958350G>A	NCBI36
NG_008884.1:g.43744G>A
NG_008884.2:g.50766G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1884+19G>A MANE Select	ENSP00000272286.2:n.1884+19G>A
ENST00000272286.2:c.1884+19G>A	ENSP00000272286.2:n.1884+19G>A
NM_022437.2:c.1884+19G>A	NP_071882.1:n.1884+19G>A
XM_005264483.2:c.1881+19G>A	XP_005264540.1:n.1881+19G>A
XM_011533029.1:c.1896+19G>A	XP_011531331.1:n.1896+19G>A
XM_011533030.1:c.1893+19G>A	XP_011531332.1:n.1893+19G>A
XM_011533031.1:c.1668+19G>A	XP_011531333.1:n.1668+19G>A
XR_939707.1:n.2386+19G>A
NM_001357321.1:c.1881+19G>A	NP_001344250.1:n.1881+19G>A
XM_011533029.2:c.1896+19G>A	XP_011531331.1:n.1896+19G>A
XM_011533030.2:c.1893+19G>A	XP_011531332.1:n.1893+19G>A
XR_001738891.1:n.2400+19G>A
XR_939707.2:n.2400+19G>A
NM_022437.3:c.1884+19G>A MANE Select	NP_071882.1:n.1884+19G>A
NM_001357321.2:c.1881+19G>A	NP_001344250.1:n.1881+19G>A