Canonical Allele Identifier: CA10587756
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 263719
ClinVar RCV Id: RCV000247796 RCV002487142
dbSNP Id: rs762923098
gnomAD v4: 14-23382532-A-C
MyVariant Identifiers: chr14:g.23851741A>C (hg19) chr14:g.23382532A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23382532A>C , CM000676.2:g.23382532A>C GRCh38
NC_000014.8:g.23851741A>C , CM000676.1:g.23851741A>C GRCh37
NC_000014.7:g.22921581A>C NCBI36
NG_023444.1:g.30746T>G , LRG_389:g.30746T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.5692T>G MANE Select ENSP00000386041.3:p.Phe1898Val
ENST00000651452.1:n.919T>G
ENST00000356287.3:c.5692T>G ENSP00000348634.3:p.Phe1898Val
ENST00000405093.7:c.5692T>G ENSP00000386041.3:p.Phe1898Val
NM_002471.3:c.5692T>G , LRG_389t1:c.5692T>G NP_002462.2:p.Phe1898Val
NM_002471.4:c.5692T>G MANE Select NP_002462.2:p.Phe1898Val
Search 100 bp 5'
Search 100 bp 3'