Canonical Allele Identifier: CA1636954

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336067
• ClinVar RCV Id: RCV000366265 ; RCV001865221 ; RCV002436202 ; RCV003330645 ; RCV003392208
• dbSNP Id: rs372921526
• ExAC: 2:44073403 G / A
• gnomAD v2: 2-44073403-G-A
• gnomAD v3: 2-43846264-G-A
• gnomAD v4: 2-43846264-G-A
• MyVariant Identifiers: chr2:g.44073403G>A (hg19) ; chr2:g.43846264G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43846264G>A , CM000664.2:g.43846264G>A	GRCh38
NC_000002.11:g.44073403G>A , CM000664.1:g.44073403G>A	GRCh37
NC_000002.10:g.43926907G>A	NCBI36
NG_008884.1:g.12301G>A
NG_008884.2:g.19323G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000272286.4:c.275G>A MANE Select	ENSP00000272286.2:p.Ser92Asn
ENST00000643284.1:n.732G>A
ENST00000644611.1:c.287G>A	ENSP00000495423.1:p.Ser96Asn
ENST00000272286.2:c.275G>A	ENSP00000272286.2:p.Ser92Asn
NM_022437.2:c.275G>A	NP_071882.1:p.Ser92Asn
XM_005264483.2:c.275G>A	XP_005264540.1:p.Ser92Asn
XM_011533029.1:c.287G>A	XP_011531331.1:p.Ser96Asn
XM_011533030.1:c.287G>A	XP_011531332.1:p.Ser96Asn
XM_011533031.1:c.59G>A	XP_011531333.1:p.Ser20Asn
XR_939707.1:n.777G>A
NM_001357321.1:c.275G>A	NP_001344250.1:p.Ser92Asn
XM_011533029.2:c.287G>A	XP_011531331.1:p.Ser96Asn
XM_011533030.2:c.287G>A	XP_011531332.1:p.Ser96Asn
XR_001738891.1:n.791G>A
XR_939707.2:n.791G>A
NM_022437.3:c.275G>A MANE Select	NP_071882.1:p.Ser92Asn
NM_001357321.2:c.275G>A	NP_001344250.1:p.Ser92Asn