Canonical Allele Identifier: CA2493964946

Gene: ABCG8

Linked Data

• dbSNP Id: rs1021585205
• gnomAD v4: 2-43877473-T-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877473T>A , CM000664.2:g.43877473T>A	GRCh38
NC_000002.11:g.44104612T>A , CM000664.1:g.44104612T>A	GRCh37
NC_000002.10:g.43958116T>A	NCBI36
NG_008884.1:g.43510T>A
NG_008884.2:g.50532T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1757-88T>A MANE Select	ENSP00000272286.2:n.1757-88T>A
ENST00000272286.2:c.1757-88T>A	ENSP00000272286.2:n.1757-88T>A
NM_022437.2:c.1757-88T>A	NP_071882.1:n.1757-88T>A
XM_005264483.2:c.1754-88T>A	XP_005264540.1:n.1754-88T>A
XM_011533029.1:c.1769-88T>A	XP_011531331.1:n.1769-88T>A
XM_011533030.1:c.1766-88T>A	XP_011531332.1:n.1766-88T>A
XM_011533031.1:c.1541-88T>A	XP_011531333.1:n.1541-88T>A
XR_939707.1:n.2259-88T>A
NM_001357321.1:c.1754-88T>A	NP_001344250.1:n.1754-88T>A
XM_011533029.2:c.1769-88T>A	XP_011531331.1:n.1769-88T>A
XM_011533030.2:c.1766-88T>A	XP_011531332.1:n.1766-88T>A
XR_001738891.1:n.2273-88T>A
XR_939707.2:n.2273-88T>A
NM_022437.3:c.1757-88T>A MANE Select	NP_071882.1:n.1757-88T>A
NM_001357321.2:c.1754-88T>A	NP_001344250.1:n.1754-88T>A