Canonical Allele Identifier: CA7114301
Gene: MYH6 HGNC NCBI

Linked Data

ClinVar Variation Id: 537945
ClinVar RCV Id: RCV000647041 RCV001700436
dbSNP Id: rs201199853
ExAC: 14:23851739 G / C
gnomAD v2: 14-23851739-G-C
gnomAD v3: 14-23382530-G-C
gnomAD v4: 14-23382530-G-C
MyVariant Identifiers: chr14:g.23851739G>C (hg19) chr14:g.23382530G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23382530G>C , CM000676.2:g.23382530G>C GRCh38
NC_000014.8:g.23851739G>C , CM000676.1:g.23851739G>C GRCh37
NC_000014.7:g.22921579G>C NCBI36
NG_023444.1:g.30748C>G , LRG_389:g.30748C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000405093.9:c.5694C>G MANE Select ENSP00000386041.3:p.Phe1898Leu
ENST00000651452.1:n.921C>G
ENST00000356287.3:c.5694C>G ENSP00000348634.3:p.Phe1898Leu
ENST00000405093.7:c.5694C>G ENSP00000386041.3:p.Phe1898Leu
NM_002471.3:c.5694C>G , LRG_389t1:c.5694C>G NP_002462.2:p.Phe1898Leu
NM_002471.4:c.5694C>G MANE Select NP_002462.2:p.Phe1898Leu
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