Canonical Allele Identifier: CA1637715
Gene: ABCG8 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.43877786T>C
GRCh37 chr2:g.44104925T>C
Revel Score:
ENST00000272286 (MANE Select) 0.021
gnomAD v2:
2:44104925 T / C
gnomAD v3:
2:43877786 T / C
gnomAD v4:
chr2-43877786-T-C
Joint Max Group AF 0.99182541 (EAS)
Genomes Max Group AF 0.97591027 (EAS)
Exomes Max Group AF 0.99145804 (EAS)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.43877786T>C , CM000664.2:g.43877786T>C GRCh38
NC_000002.11:g.44104925T>C , CM000664.1:g.44104925T>C GRCh37
NC_000002.10:g.43958429T>C NCBI36
NG_008884.1:g.43823T>C
NG_008884.2:g.50845T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000272286.4:c.1895T>C MANE Select ENSP00000272286.2:p.Val632Ala
ENST00000272286.2:c.1895T>C ENSP00000272286.2:p.Val632Ala
NM_022437.2:c.1895T>C NP_071882.1:p.Val632Ala
XM_005264483.2:c.1892T>C XP_005264540.1:p.Val631Ala
XM_011533029.1:c.1907T>C XP_011531331.1:p.Val636Ala
XM_011533030.1:c.1904T>C XP_011531332.1:p.Val635Ala
XM_011533031.1:c.1679T>C XP_011531333.1:p.Val560Ala
XR_939707.1:n.2397T>C
NM_001357321.1:c.1892T>C NP_001344250.1:p.Val631Ala
XM_011533029.2:c.1907T>C XP_011531331.1:p.Val636Ala
XM_011533030.2:c.1904T>C XP_011531332.1:p.Val635Ala
XR_001738891.1:n.2411T>C
XR_939707.2:n.2411T>C
NM_022437.3:c.1895T>C MANE Select NP_071882.1:p.Val632Ala
NM_001357321.2:c.1892T>C NP_001344250.1:p.Val631Ala
Search 100 bp 5'
Search 100 bp 3'