Canonical Allele Identifier: CA1636887

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 500866
• ClinVar RCV Id: RCV000591513 ; RCV001336053 ; RCV002384302 ; RCV001821728 ; RCV002506425 ; RCV003952984
• dbSNP Id: rs148456883
• ExAC: 2:44071679 G / A
• gnomAD v2: 2-44071679-G-A
• gnomAD v3: 2-43844540-G-A
• gnomAD v4: 2-43844540-G-A
• MyVariant Identifiers: chr2:g.44071679G>A (hg19) ; chr2:g.43844540G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844540G>A , CM000664.2:g.43844540G>A	GRCh38
NC_000002.11:g.44071679G>A , CM000664.1:g.44071679G>A	GRCh37
NC_000002.10:g.43925183G>A	NCBI36
NG_008884.1:g.10577G>A
NG_008884.2:g.17599G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.97G>A MANE Select	ENSP00000272286.2:p.Asp33Asn
ENST00000643284.1:n.554G>A
ENST00000644611.1:c.109G>A	ENSP00000495423.1:p.Asp37Asn
ENST00000272286.2:c.97G>A	ENSP00000272286.2:p.Asp33Asn
NM_022437.2:c.97G>A	NP_071882.1:p.Asp33Asn
XM_005264483.2:c.97G>A	XP_005264540.1:p.Asp33Asn
XM_011533029.1:c.109G>A	XP_011531331.1:p.Asp37Asn
XM_011533030.1:c.109G>A	XP_011531332.1:p.Asp37Asn
XM_011533031.1:c.-120G>A	XP_011531333.1:n.-120G>A
XR_939707.1:n.599G>A
NM_001357321.1:c.97G>A	NP_001344250.1:p.Asp33Asn
XM_011533029.2:c.109G>A	XP_011531331.1:p.Asp37Asn
XM_011533030.2:c.109G>A	XP_011531332.1:p.Asp37Asn
XR_001738891.1:n.613G>A
XR_939707.2:n.613G>A
NM_022437.3:c.97G>A MANE Select	NP_071882.1:p.Asp33Asn
NM_001357321.2:c.97G>A	NP_001344250.1:p.Asp33Asn