Canonical Allele Identifier: CA425908175

Gene: ABCG8

Linked Data

• gnomAD v4: 2-43877595-G-A
• MyVariant Identifiers: chr2:g.44104734G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877595G>A , CM000664.2:g.43877595G>A	GRCh38
NC_000002.11:g.44104734G>A , CM000664.1:g.44104734G>A	GRCh37
NC_000002.10:g.43958238G>A	NCBI36
NG_008884.1:g.43632G>A
NG_008884.2:g.50654G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1791G>A MANE Select	ENSP00000272286.2:p.Arg597=
ENST00000272286.2:c.1791G>A	ENSP00000272286.2:p.Arg597=
NM_022437.2:c.1791G>A	NP_071882.1:p.Arg597=
XM_005264483.2:c.1788G>A	XP_005264540.1:p.Arg596=
XM_011533029.1:c.1803G>A	XP_011531331.1:p.Arg601=
XM_011533030.1:c.1800G>A	XP_011531332.1:p.Arg600=
XM_011533031.1:c.1575G>A	XP_011531333.1:p.Arg525=
XR_939707.1:n.2293G>A
NM_001357321.1:c.1788G>A	NP_001344250.1:p.Arg596=
XM_011533029.2:c.1803G>A	XP_011531331.1:p.Arg601=
XM_011533030.2:c.1800G>A	XP_011531332.1:p.Arg600=
XR_001738891.1:n.2307G>A
XR_939707.2:n.2307G>A
NM_022437.3:c.1791G>A MANE Select	NP_071882.1:p.Arg597=
NM_001357321.2:c.1788G>A	NP_001344250.1:p.Arg596=