Canonical Allele Identifier: CA389034491
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1469642680
gnomAD v2: 14-23882976-C-A
MyVariant Identifiers: chr14:g.23882976C>A (hg19) chr14:g.23413767C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413767C>A , CM000676.2:g.23413767C>A GRCh38
NC_000014.8:g.23882976C>A , CM000676.1:g.23882976C>A GRCh37
NC_000014.7:g.22952816C>A NCBI36
NG_007884.1:g.26895G>T , LRG_384:g.26895G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5782G>T MANE Select ENSP00000347507.3:p.Gly1928Cys
ENST00000355349.3:c.5782G>T ENSP00000347507.3:p.Gly1928Cys
NM_000257.3:c.5782G>T NP_000248.2:p.Gly1928Cys
XM_017021340.1:c.5782G>T XP_016876829.1:p.Gly1928Cys
NM_000257.4:c.5782G>T MANE Select NP_000248.2:p.Gly1928Cys
Search 100 bp 5'
Search 100 bp 3'