Canonical Allele Identifier: CA346670641

Gene: ABCG8

Linked Data

• MyVariant Identifiers: chr2:g.44102507T>C (hg19) ; chr2:g.43875368T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875368T>C , CM000664.2:g.43875368T>C	GRCh38
NC_000002.11:g.44102507T>C , CM000664.1:g.44102507T>C	GRCh37
NC_000002.10:g.43956011T>C	NCBI36
NG_008884.1:g.41405T>C
NG_008884.2:g.48427T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1711T>C MANE Select	ENSP00000272286.2:p.Tyr571His
ENST00000272286.2:c.1711T>C	ENSP00000272286.2:p.Tyr571His
NM_022437.2:c.1711T>C	NP_071882.1:p.Tyr571His
XM_005264483.2:c.1708T>C	XP_005264540.1:p.Tyr570His
XM_011533029.1:c.1723T>C	XP_011531331.1:p.Tyr575His
XM_011533030.1:c.1720T>C	XP_011531332.1:p.Tyr574His
XM_011533031.1:c.1495T>C	XP_011531333.1:p.Tyr499His
XR_939707.1:n.2213T>C
NM_001357321.1:c.1708T>C	NP_001344250.1:p.Tyr570His
XM_011533029.2:c.1723T>C	XP_011531331.1:p.Tyr575His
XM_011533030.2:c.1720T>C	XP_011531332.1:p.Tyr574His
XR_001738891.1:n.2227T>C
XR_939707.2:n.2227T>C
NM_022437.3:c.1711T>C MANE Select	NP_071882.1:p.Tyr571His
NM_001357321.2:c.1708T>C	NP_001344250.1:p.Tyr570His