Canonical Allele Identifier: CA1637670

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 499832
• ClinVar RCV Id: RCV000592962 ; RCV003160031
• dbSNP Id: rs763348699
• ExAC: 2:44104750 C / G
• gnomAD v2: 2-44104750-C-G
• gnomAD v3: 2-43877611-C-G
• gnomAD v4: 2-43877611-C-G
• MyVariant Identifiers: chr2:g.44104750C>G (hg19) ; chr2:g.43877611C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877611C>G , CM000664.2:g.43877611C>G	GRCh38
NC_000002.11:g.44104750C>G , CM000664.1:g.44104750C>G	GRCh37
NC_000002.10:g.43958254C>G	NCBI36
NG_008884.1:g.43648C>G
NG_008884.2:g.50670C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1807C>G MANE Select	ENSP00000272286.2:p.Leu603Val
ENST00000272286.2:c.1807C>G	ENSP00000272286.2:p.Leu603Val
NM_022437.2:c.1807C>G	NP_071882.1:p.Leu603Val
XM_005264483.2:c.1804C>G	XP_005264540.1:p.Leu602Val
XM_011533029.1:c.1819C>G	XP_011531331.1:p.Leu607Val
XM_011533030.1:c.1816C>G	XP_011531332.1:p.Leu606Val
XM_011533031.1:c.1591C>G	XP_011531333.1:p.Leu531Val
XR_939707.1:n.2309C>G
NM_001357321.1:c.1804C>G	NP_001344250.1:p.Leu602Val
XM_011533029.2:c.1819C>G	XP_011531331.1:p.Leu607Val
XM_011533030.2:c.1816C>G	XP_011531332.1:p.Leu606Val
XR_001738891.1:n.2323C>G
XR_939707.2:n.2323C>G
NM_022437.3:c.1807C>G MANE Select	NP_071882.1:p.Leu603Val
NM_001357321.2:c.1804C>G	NP_001344250.1:p.Leu602Val