Canonical Allele Identifier: CA346670872

Gene: ABCG8

Linked Data

• dbSNP Id: rs1381705606
• gnomAD v3: 2-43877620-A-G
• gnomAD v4: 2-43877620-A-G
• MyVariant Identifiers: chr2:g.44104759A>G (hg19) ; chr2:g.43877620A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43877620A>G , CM000664.2:g.43877620A>G	GRCh38
NC_000002.11:g.44104759A>G , CM000664.1:g.44104759A>G	GRCh37
NC_000002.10:g.43958263A>G	NCBI36
NG_008884.1:g.43657A>G
NG_008884.2:g.50679A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1816A>G MANE Select	ENSP00000272286.2:p.Ile606Val
ENST00000272286.2:c.1816A>G	ENSP00000272286.2:p.Ile606Val
NM_022437.2:c.1816A>G	NP_071882.1:p.Ile606Val
XM_005264483.2:c.1813A>G	XP_005264540.1:p.Ile605Val
XM_011533029.1:c.1828A>G	XP_011531331.1:p.Ile610Val
XM_011533030.1:c.1825A>G	XP_011531332.1:p.Ile609Val
XM_011533031.1:c.1600A>G	XP_011531333.1:p.Ile534Val
XR_939707.1:n.2318A>G
NM_001357321.1:c.1813A>G	NP_001344250.1:p.Ile605Val
XM_011533029.2:c.1828A>G	XP_011531331.1:p.Ile610Val
XM_011533030.2:c.1825A>G	XP_011531332.1:p.Ile609Val
XR_001738891.1:n.2332A>G
XR_939707.2:n.2332A>G
NM_022437.3:c.1816A>G MANE Select	NP_071882.1:p.Ile606Val
NM_001357321.2:c.1813A>G	NP_001344250.1:p.Ile605Val