Canonical Allele Identifier: CA1636900

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 767793
• ClinVar RCV Id: RCV000946605 ; RCV001143576 ; RCV002400098 ; RCV003489975
• dbSNP Id: rs142250628
• ExAC: 2:44071736 C / G
• gnomAD v2: 2-44071736-C-G
• gnomAD v3: 2-43844597-C-G
• gnomAD v4: 2-43844597-C-G
• MyVariant Identifiers: chr2:g.44071736C>G (hg19) ; chr2:g.43844597C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43844597C>G , CM000664.2:g.43844597C>G	GRCh38
NC_000002.11:g.44071736C>G , CM000664.1:g.44071736C>G	GRCh37
NC_000002.10:g.43925240C>G	NCBI36
NG_008884.1:g.10634C>G
NG_008884.2:g.17656C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.154C>G MANE Select	ENSP00000272286.2:p.Leu52Val
ENST00000643284.1:n.611C>G
ENST00000644611.1:c.166C>G	ENSP00000495423.1:p.Leu56Val
ENST00000272286.2:c.154C>G	ENSP00000272286.2:p.Leu52Val
NM_022437.2:c.154C>G	NP_071882.1:p.Leu52Val
XM_005264483.2:c.154C>G	XP_005264540.1:p.Leu52Val
XM_011533029.1:c.166C>G	XP_011531331.1:p.Leu56Val
XM_011533030.1:c.166C>G	XP_011531332.1:p.Leu56Val
XM_011533031.1:c.-63C>G	XP_011531333.1:n.-63C>G
XR_939707.1:n.656C>G
NM_001357321.1:c.154C>G	NP_001344250.1:p.Leu52Val
XM_011533029.2:c.166C>G	XP_011531331.1:p.Leu56Val
XM_011533030.2:c.166C>G	XP_011531332.1:p.Leu56Val
XR_001738891.1:n.670C>G
XR_939707.2:n.670C>G
NM_022437.3:c.154C>G MANE Select	NP_071882.1:p.Leu52Val
NM_001357321.2:c.154C>G	NP_001344250.1:p.Leu52Val