Canonical Allele Identifier: CA389035966
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2689497
ClinVar RCV Id: RCV003488088
dbSNP Id: rs727504355
gnomAD v4: 14-23415267-C-A
MyVariant Identifiers: chr14:g.23884476C>A (hg19) chr14:g.23415267C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415267C>A , CM000676.2:g.23415267C>A GRCh38
NC_000014.8:g.23884476C>A , CM000676.1:g.23884476C>A GRCh37
NC_000014.7:g.22954316C>A NCBI36
NG_007884.1:g.25395G>T , LRG_384:g.25395G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5287G>T MANE Select ENSP00000347507.3:p.Ala1763Ser
ENST00000355349.3:c.5287G>T ENSP00000347507.3:p.Ala1763Ser
NM_000257.3:c.5287G>T NP_000248.2:p.Ala1763Ser
XM_017021340.1:c.5287G>T XP_016876829.1:p.Ala1763Ser
NM_000257.4:c.5287G>T MANE Select NP_000248.2:p.Ala1763Ser
Search 100 bp 5'
Search 100 bp 3'