Canonical Allele Identifier: CA1637274

Gene: ABCG8

Linked Data

• ClinVar Variation Id: 286431
• ClinVar RCV Id: RCV000296238 ; RCV003909985
• dbSNP Id: rs114404835
• ExAC: 2:44099243 A / G
• gnomAD v2: 2-44099243-A-G
• gnomAD v3: 2-43872104-A-G
• gnomAD v4: 2-43872104-A-G
• MyVariant Identifiers: chr2:g.44099243A>G (hg19) ; chr2:g.43872104A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.43872104A>G , CM000664.2:g.43872104A>G	GRCh38
NC_000002.11:g.44099243A>G , CM000664.1:g.44099243A>G	GRCh37
NC_000002.10:g.43952747A>G	NCBI36
NG_008884.1:g.38141A>G
NG_008884.2:g.45163A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000272286.4:c.1093A>G MANE Select	ENSP00000272286.2:p.Thr365Ala
ENST00000644611.1:c.1105A>G	ENSP00000495423.1:p.Thr369Ala
ENST00000272286.2:c.1093A>G	ENSP00000272286.2:p.Thr365Ala
NM_022437.2:c.1093A>G	NP_071882.1:p.Thr365Ala
XM_005264483.2:c.1093A>G	XP_005264540.1:p.Thr365Ala
XM_011533029.1:c.1105A>G	XP_011531331.1:p.Thr369Ala
XM_011533030.1:c.1105A>G	XP_011531332.1:p.Thr369Ala
XM_011533031.1:c.877A>G	XP_011531333.1:p.Thr293Ala
XR_939707.1:n.1595A>G
NM_001357321.1:c.1093A>G	NP_001344250.1:p.Thr365Ala
XM_011533029.2:c.1105A>G	XP_011531331.1:p.Thr369Ala
XM_011533030.2:c.1105A>G	XP_011531332.1:p.Thr369Ala
XR_001738891.1:n.1609A>G
XR_939707.2:n.1609A>G
NM_022437.3:c.1093A>G MANE Select	NP_071882.1:p.Thr365Ala
NM_001357321.2:c.1093A>G	NP_001344250.1:p.Thr365Ala