Canonical Allele Identifier: CA485616115
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1332524
ClinVar RCV Id: RCV001805570
dbSNP Id: rs2138635168
gnomAD v4: 14-23413807-C-T
COSMIC: COSM6332681
MyVariant Identifiers: chr14:g.23883016C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23413807C>T , CM000676.2:g.23413807C>T GRCh38
NC_000014.8:g.23883016C>T , CM000676.1:g.23883016C>T GRCh37
NC_000014.7:g.22952856C>T NCBI36
NG_007884.1:g.26855G>A , LRG_384:g.26855G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.5742G>A MANE Select ENSP00000347507.3:p.Glu1914=
ENST00000355349.3:c.5742G>A ENSP00000347507.3:p.Glu1914=
NM_000257.3:c.5742G>A NP_000248.2:p.Glu1914=
XM_017021340.1:c.5742G>A XP_016876829.1:p.Glu1914=
NM_000257.4:c.5742G>A MANE Select NP_000248.2:p.Glu1914=
Search 100 bp 5'
Search 100 bp 3'