Canonical Allele Identifier: CA15993642
Gene: H1-0 HGNC NCBI
MyVariant.info:
GRCh38 chr22:g.37806545T>C
GRCh37 chr22:g.38202552T>C
gnomAD v2:
22:38202552 T / C
gnomAD v3:
22:37806545 T / C
gnomAD v4:
chr22-37806545-T-C
Joint Max Group AF 0.97248134 (EAS)
Genomes Max Group AF 0.97075308 (EAS)
Exomes Max Group AF 0.9342201 (EAS)
dbSNP:
1894644
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Genomic Alleles

HGVS Genome Assembly
NC_000022.11:g.37806545T>C , CM000684.2:g.37806545T>C GRCh38
NC_000022.10:g.38202552T>C , CM000684.1:g.38202552T>C GRCh37
NC_000022.9:g.36532498T>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000340857.4:c.*416T>C MANE Select ENSP00000344504.2:n.*416T>C
ENST00000340857.3:c.*416T>C ENSP00000344504.2:n.*416T>C
NM_005318.3:c.*416T>C NP_005309.1:n.*416T>C
NM_005318.4:c.*416T>C MANE Select NP_005309.1:n.*416T>C
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