Canonical Allele Identifier: CA2493965118

Gene: ABCG8

Linked Data

• dbSNP Id: rs1670011288

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877757T>A , CM000664.2:g.43877757T>A	GRCh38
NC_000002.11:g.44104896T>A , CM000664.1:g.44104896T>A	GRCh37
NC_000002.10:g.43958400T>A	NCBI36
NG_008884.1:g.43794T>A
NG_008884.2:g.50816T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1885-19T>A MANE Select	ENSP00000272286.2:n.1885-19T>A
ENST00000272286.2:c.1885-19T>A	ENSP00000272286.2:n.1885-19T>A
NM_022437.2:c.1885-19T>A	NP_071882.1:n.1885-19T>A
XM_005264483.2:c.1882-19T>A	XP_005264540.1:n.1882-19T>A
XM_011533029.1:c.1897-19T>A	XP_011531331.1:n.1897-19T>A
XM_011533030.1:c.1894-19T>A	XP_011531332.1:n.1894-19T>A
XM_011533031.1:c.1669-19T>A	XP_011531333.1:n.1669-19T>A
XR_939707.1:n.2387-19T>A
NM_001357321.1:c.1882-19T>A	NP_001344250.1:n.1882-19T>A
XM_011533029.2:c.1897-19T>A	XP_011531331.1:n.1897-19T>A
XM_011533030.2:c.1894-19T>A	XP_011531332.1:n.1894-19T>A
XR_001738891.1:n.2401-19T>A
XR_939707.2:n.2401-19T>A
NM_022437.3:c.1885-19T>A MANE Select	NP_071882.1:n.1885-19T>A
NM_001357321.2:c.1882-19T>A	NP_001344250.1:n.1882-19T>A