Canonical Allele Identifier: CA15950176
Gene: TOMM40 HGNC NCBI
MyVariant.info:
GRCh38 chr19:g.44891079T>C
GRCh37 chr19:g.45394336T>C
gnomAD v2:
19:45394336 T / C
gnomAD v3:
19:44891079 T / C
gnomAD v4:
chr19-44891079-T-C
Joint Max Group AF 0.13906584 (NFE)
Genomes Max Group AF 0.14050607 (NFE)
Exomes Max Group AF 0.13480025 (NFE)
dbSNP:
71352238
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Genomic Alleles

HGVS Genome Assembly
NC_000019.10:g.44891079T>C , CM000681.2:g.44891079T>C GRCh38
NC_000019.9:g.45394336T>C , CM000681.1:g.45394336T>C GRCh37
NC_000019.8:g.50086176T>C NCBI36
NG_029149.1:g.49944T>C
NG_042854.1:g.4860T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000589253.1:c.-9-328T>C ENSP00000465611.1:n.-9-328T>C
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