Canonical Allele Identifier: CA1637285
Gene: ABCG8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43872128T>C
GRCh37 chr2:g.44099267T>C
Revel Score:
ENST00000272286 (MANE Select) 0.201
gnomAD v2:
2:44099267 T / C
gnomAD v3:
2:43872128 T / C
gnomAD v4:
chr2-43872128-T-C
Joint Max Group AF 0.00308063 (SAS)
Genomes Max Group AF 0.00258099 (SAS)
Exomes Max Group AF 0.00304311 (SAS)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43872128T>C , CM000664.2:g.43872128T>C GRCh38
NC_000002.11:g.44099267T>C , CM000664.1:g.44099267T>C GRCh37
NC_000002.10:g.43952771T>C NCBI36
NG_008884.1:g.38165T>C
NG_008884.2:g.45187T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1117T>C MANE Select ENSP00000272286.2:p.Cys373Arg
ENST00000644611.1:c.1129T>C ENSP00000495423.1:p.Cys377Arg
ENST00000272286.2:c.1117T>C ENSP00000272286.2:p.Cys373Arg
NM_022437.2:c.1117T>C NP_071882.1:p.Cys373Arg
XM_005264483.2:c.1117T>C XP_005264540.1:p.Cys373Arg
XM_011533029.1:c.1129T>C XP_011531331.1:p.Cys377Arg
XM_011533030.1:c.1129T>C XP_011531332.1:p.Cys377Arg
XM_011533031.1:c.901T>C XP_011531333.1:p.Cys301Arg
XR_939707.1:n.1619T>C
NM_001357321.1:c.1117T>C NP_001344250.1:p.Cys373Arg
XM_011533029.2:c.1129T>C XP_011531331.1:p.Cys377Arg
XM_011533030.2:c.1129T>C XP_011531332.1:p.Cys377Arg
XR_001738891.1:n.1633T>C
XR_939707.2:n.1633T>C
NM_022437.3:c.1117T>C MANE Select NP_071882.1:p.Cys373Arg
NM_001357321.2:c.1117T>C NP_001344250.1:p.Cys373Arg
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