Canonical Allele Identifier: CA346670460

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102417T>A (hg19) ; chr2:g.43875278T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875278T>A , CM000664.2:g.43875278T>A	GRCh38
NC_000002.11:g.44102417T>A , CM000664.1:g.44102417T>A	GRCh37
NC_000002.10:g.43955921T>A	NCBI36
NG_008884.1:g.41315T>A
NG_008884.2:g.48337T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.1621T>A MANE Select	ENSP00000272286.2:p.Cys541Ser
ENST00000272286.2:c.1621T>A	ENSP00000272286.2:p.Cys541Ser
NM_022437.2:c.1621T>A	NP_071882.1:p.Cys541Ser
XM_005264483.2:c.1618T>A	XP_005264540.1:p.Cys540Ser
XM_011533029.1:c.1633T>A	XP_011531331.1:p.Cys545Ser
XM_011533030.1:c.1630T>A	XP_011531332.1:p.Cys544Ser
XM_011533031.1:c.1405T>A	XP_011531333.1:p.Cys469Ser
XR_939707.1:n.2123T>A
NM_001357321.1:c.1618T>A	NP_001344250.1:p.Cys540Ser
XM_011533029.2:c.1633T>A	XP_011531331.1:p.Cys545Ser
XM_011533030.2:c.1630T>A	XP_011531332.1:p.Cys544Ser
XR_001738891.1:n.2137T>A
XR_939707.2:n.2137T>A
NM_022437.3:c.1621T>A MANE Select	NP_071882.1:p.Cys541Ser
NM_001357321.2:c.1618T>A	NP_001344250.1:p.Cys540Ser