Canonical Allele Identifier: CA346662345

Gene: ABCG8

Linked Data

• dbSNP Id: rs1432143151
• gnomAD v2: 2-44066193-A-G
• gnomAD v4: 2-43839054-A-G
• MyVariant Identifiers: chr2:g.44066193A>G (hg19) ; chr2:g.43839054A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43839054A>G , CM000664.2:g.43839054A>G	GRCh38
NC_000002.11:g.44066193A>G , CM000664.1:g.44066193A>G	GRCh37
NC_000002.10:g.43919697A>G	NCBI36
NG_008883.1:g.4766T>C
NG_008884.1:g.5091A>G
NG_008884.2:g.12113A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1A>G MANE Select	ENSP00000272286.2:p.Met1Val
ENST00000643284.1:n.521-5453A>G
ENST00000644611.1:c.76-5453A>G	ENSP00000495423.1:n.76-5453A>G
ENST00000272286.2:c.1A>G	ENSP00000272286.2:p.Met1Val
NM_022437.2:c.1A>G	NP_071882.1:p.Met1Val
XM_005264483.2:c.1A>G	XP_005264540.1:p.Met1Val
XM_011533029.1:c.76-5453A>G	XP_011531331.1:n.76-5453A>G
XM_011533030.1:c.76-5453A>G	XP_011531332.1:n.76-5453A>G
XM_011533031.1:c.-153-5453A>G	XP_011531333.1:n.-153-5453A>G
XR_939707.1:n.566-5453A>G
NM_001357321.1:c.1A>G	NP_001344250.1:p.Met1Val
XM_011533029.2:c.76-5453A>G	XP_011531331.1:n.76-5453A>G
XM_011533030.2:c.76-5453A>G	XP_011531332.1:n.76-5453A>G
XR_001738891.1:n.580-5453A>G
XR_939707.2:n.580-5453A>G
NM_022437.3:c.1A>G MANE Select	NP_071882.1:p.Met1Val
NM_001357321.2:c.1A>G	NP_001344250.1:p.Met1Val