Canonical Allele Identifier: CA1637102

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336071
• ClinVar RCV Id: RCV000317041 ; RCV000597045 ; RCV002365403 ; RCV003972422
• dbSNP Id: rs202198142
• ExAC: 2:44079573 G / A
• gnomAD v2: 2-44079573-G-A
• gnomAD v3: 2-43852434-G-A
• gnomAD v4: 2-43852434-G-A
• COSMIC: COSM5509801
• MyVariant Identifiers: chr2:g.44079573G>A (hg19) ; chr2:g.43852434G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43852434G>A , CM000664.2:g.43852434G>A	GRCh38
NC_000002.11:g.44079573G>A , CM000664.1:g.44079573G>A	GRCh37
NC_000002.10:g.43933077G>A	NCBI36
NG_008884.1:g.18471G>A
NG_008884.2:g.25493G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.642G>A MANE Select	ENSP00000272286.2:p.Ser214=
ENST00000644611.1:c.654G>A	ENSP00000495423.1:p.Ser218=
ENST00000272286.2:c.642G>A	ENSP00000272286.2:p.Ser214=
NM_022437.2:c.642G>A	NP_071882.1:p.Ser214=
XM_005264483.2:c.642G>A	XP_005264540.1:p.Ser214=
XM_011533029.1:c.654G>A	XP_011531331.1:p.Ser218=
XM_011533030.1:c.654G>A	XP_011531332.1:p.Ser218=
XM_011533031.1:c.426G>A	XP_011531333.1:p.Ser142=
XR_939707.1:n.1144G>A
NM_001357321.1:c.642G>A	NP_001344250.1:p.Ser214=
XM_011533029.2:c.654G>A	XP_011531331.1:p.Ser218=
XM_011533030.2:c.654G>A	XP_011531332.1:p.Ser218=
XR_001738891.1:n.1158G>A
XR_939707.2:n.1158G>A
NM_022437.3:c.642G>A MANE Select	NP_071882.1:p.Ser214=
NM_001357321.2:c.642G>A	NP_001344250.1:p.Ser214=