Canonical Allele Identifier: CA389034566
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 3075137
ClinVar RCV Id: RCV004015663
MyVariant Identifiers: chr14:g.23883014G>C (hg19) chr14:g.23413805G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413805G>C , CM000676.2:g.23413805G>C GRCh38
NC_000014.8:g.23883014G>C , CM000676.1:g.23883014G>C GRCh37
NC_000014.7:g.22952854G>C NCBI36
NG_007884.1:g.26857C>G , LRG_384:g.26857C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5744C>G MANE Select ENSP00000347507.3:p.Ser1915Cys
ENST00000355349.3:c.5744C>G ENSP00000347507.3:p.Ser1915Cys
NM_000257.3:c.5744C>G NP_000248.2:p.Ser1915Cys
XM_017021340.1:c.5744C>G XP_016876829.1:p.Ser1915Cys
NM_000257.4:c.5744C>G MANE Select NP_000248.2:p.Ser1915Cys
Search 100 bp 5'
Search 100 bp 3'