Canonical Allele Identifier: CA1244346
Gene: MYOC HGNC NCBI

Linked Data

ClinVar Variation Id: 1703212
ClinVar RCV Id: RCV002280335
dbSNP Id: rs767625681
ExAC: 1:171621732 C / T
gnomAD v2: 1-171621732-C-T
gnomAD v4: 1-171652592-C-T
MyVariant Identifiers: chr1:g.171621732C>T (hg19) chr1:g.171652592C>T (hg38)
ERepo: CA1244346/MONDO:0007665/019
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.171652592C>T , CM000663.2:g.171652592C>T GRCh38
NC_000001.10:g.171621732C>T , CM000663.1:g.171621732C>T GRCh37
NC_000001.9:g.169888355C>T NCBI36
NG_008859.1:g.5042G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000037502.11:c.20G>A MANE Select ENSP00000037502.5:p.Arg7His
ENST00000638471.1:c.20G>A ENSP00000491206.1:p.Arg7His
ENST00000037502.10:c.20G>A ENSP00000037502.5:p.Arg7His
ENST00000614688.1:c.20G>A ENSP00000478680.1:p.Arg7His
NM_000261.1:c.20G>A NP_000252.1:p.Arg7His
NM_000261.2:c.20G>A MANE Select NP_000252.1:p.Arg7His
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