Canonical Allele Identifier: CA346670483

Gene: ABCG8

Linked Data

• dbSNP Id: rs1418885926
• gnomAD v4: 2-43875288-T-A
• MyVariant Identifiers: chr2:g.44102427T>A (hg19) ; chr2:g.43875288T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43875288T>A , CM000664.2:g.43875288T>A	GRCh38
NC_000002.11:g.44102427T>A , CM000664.1:g.44102427T>A	GRCh37
NC_000002.10:g.43955931T>A	NCBI36
NG_008884.1:g.41325T>A
NG_008884.2:g.48347T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1631T>A MANE Select	ENSP00000272286.2:p.Ile544Asn
ENST00000272286.2:c.1631T>A	ENSP00000272286.2:p.Ile544Asn
NM_022437.2:c.1631T>A	NP_071882.1:p.Ile544Asn
XM_005264483.2:c.1628T>A	XP_005264540.1:p.Ile543Asn
XM_011533029.1:c.1643T>A	XP_011531331.1:p.Ile548Asn
XM_011533030.1:c.1640T>A	XP_011531332.1:p.Ile547Asn
XM_011533031.1:c.1415T>A	XP_011531333.1:p.Ile472Asn
XR_939707.1:n.2133T>A
NM_001357321.1:c.1628T>A	NP_001344250.1:p.Ile543Asn
XM_011533029.2:c.1643T>A	XP_011531331.1:p.Ile548Asn
XM_011533030.2:c.1640T>A	XP_011531332.1:p.Ile547Asn
XR_001738891.1:n.2147T>A
XR_939707.2:n.2147T>A
NM_022437.3:c.1631T>A MANE Select	NP_071882.1:p.Ile544Asn
NM_001357321.2:c.1628T>A	NP_001344250.1:p.Ile543Asn