Canonical Allele Identifier: CA7114630
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 228895
ClinVar RCV Id: RCV000219757 RCV000468191 RCV004532760 RCV001573798 RCV002338682 RCV002485392
dbSNP Id: rs780726611
ExAC: 14:23855655 G / A
gnomAD v2: 14-23855655-G-A
gnomAD v3: 14-23386446-G-A
gnomAD v4: 14-23386446-G-A
MyVariant Identifiers: chr14:g.23855655G>A (hg19) chr14:g.23386446G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23386446G>A , CM000676.2:g.23386446G>A GRCh38
NC_000014.8:g.23855655G>A , CM000676.1:g.23855655G>A GRCh37
NC_000014.7:g.22925495G>A NCBI36
NG_023444.1:g.26832C>T , LRG_389:g.26832C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000405093.9:c.4828C>T MANE Select ENSP00000386041.3:p.Arg1610Cys
ENST00000356287.3:c.4828C>T ENSP00000348634.3:p.Arg1610Cys
ENST00000405093.7:c.4828C>T ENSP00000386041.3:p.Arg1610Cys
NM_002471.3:c.4828C>T , LRG_389t1:c.4828C>T NP_002462.2:p.Arg1610Cys
NM_002471.4:c.4828C>T MANE Select NP_002462.2:p.Arg1610Cys
Search 100 bp 5'
Search 100 bp 3'