Canonical Allele Identifier: CA1636886

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 336063
• ClinVar RCV Id: RCV000403947 ; RCV000967641 ; RCV002374580 ; RCV003922455
• dbSNP Id: rs148370122
• ExAC: 2:44071676 A / G
• gnomAD v2: 2-44071676-A-G
• gnomAD v3: 2-43844537-A-G
• gnomAD v4: 2-43844537-A-G
• MyVariant Identifiers: chr2:g.44071676A>G (hg19) ; chr2:g.43844537A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844537A>G , CM000664.2:g.43844537A>G	GRCh38
NC_000002.11:g.44071676A>G , CM000664.1:g.44071676A>G	GRCh37
NC_000002.10:g.43925180A>G	NCBI36
NG_008884.1:g.10574A>G
NG_008884.2:g.17596A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.94A>G MANE Select	ENSP00000272286.2:p.Ser32Gly
ENST00000643284.1:n.551A>G
ENST00000644611.1:c.106A>G	ENSP00000495423.1:p.Ser36Gly
ENST00000272286.2:c.94A>G	ENSP00000272286.2:p.Ser32Gly
NM_022437.2:c.94A>G	NP_071882.1:p.Ser32Gly
XM_005264483.2:c.94A>G	XP_005264540.1:p.Ser32Gly
XM_011533029.1:c.106A>G	XP_011531331.1:p.Ser36Gly
XM_011533030.1:c.106A>G	XP_011531332.1:p.Ser36Gly
XM_011533031.1:c.-123A>G	XP_011531333.1:n.-123A>G
XR_939707.1:n.596A>G
NM_001357321.1:c.94A>G	NP_001344250.1:p.Ser32Gly
XM_011533029.2:c.106A>G	XP_011531331.1:p.Ser36Gly
XM_011533030.2:c.106A>G	XP_011531332.1:p.Ser36Gly
XR_001738891.1:n.610A>G
XR_939707.2:n.610A>G
NM_022437.3:c.94A>G MANE Select	NP_071882.1:p.Ser32Gly
NM_001357321.2:c.94A>G	NP_001344250.1:p.Ser32Gly