Canonical Allele Identifier: CA46435192
Gene: ABCG8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43846742T>C
GRCh37 chr2:g.44073881T>C
gnomAD v2:
2:44073881 T / C
gnomAD v3:
2:43846742 T / C
gnomAD v4:
chr2-43846742-T-C
Joint Max Group AF 0.98049009 (EAS)
Genomes Max Group AF 0.97153025 (EAS)
Exomes Max Group AF 0.97632718 (EAS)
ClinVar RCV:
RCV001511513
ClinVar Variation:
1164919
dbSNP:
6544713
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43846742T>C , CM000664.2:g.43846742T>C GRCh38
NC_000002.11:g.44073881T>C , CM000664.1:g.44073881T>C GRCh37
NC_000002.10:g.43927385T>C NCBI36
NG_008884.1:g.12779T>C
NG_008884.2:g.19801T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.322+431T>C MANE Select ENSP00000272286.2:n.322+431T>C
ENST00000643284.1:n.1210T>C
ENST00000644611.1:c.334+431T>C ENSP00000495423.1:n.334+431T>C
ENST00000272286.2:c.322+431T>C ENSP00000272286.2:n.322+431T>C
NM_022437.2:c.322+431T>C NP_071882.1:n.322+431T>C
XM_005264483.2:c.322+431T>C XP_005264540.1:n.322+431T>C
XM_011533029.1:c.334+431T>C XP_011531331.1:n.334+431T>C
XM_011533030.1:c.334+431T>C XP_011531332.1:n.334+431T>C
XM_011533031.1:c.106+431T>C XP_011531333.1:n.106+431T>C
XR_939707.1:n.824+431T>C
NM_001357321.1:c.322+431T>C NP_001344250.1:n.322+431T>C
XM_011533029.2:c.334+431T>C XP_011531331.1:n.334+431T>C
XM_011533030.2:c.334+431T>C XP_011531332.1:n.334+431T>C
XR_001738891.1:n.838+431T>C
XR_939707.2:n.838+431T>C
NM_022437.3:c.322+431T>C MANE Select NP_071882.1:n.322+431T>C
NM_001357321.2:c.322+431T>C NP_001344250.1:n.322+431T>C
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