Canonical Allele Identifier: CA257813292
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 454376
ClinVar RCV Id: RCV000533806
dbSNP Id: rs730880796
gnomAD v2: 14-23886827-G-T
gnomAD v4: 14-23417618-G-T
MyVariant Identifiers: chr14:g.23886827G>T (hg19) chr14:g.23417618G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417618G>T , CM000676.2:g.23417618G>T GRCh38
NC_000014.8:g.23886827G>T , CM000676.1:g.23886827G>T GRCh37
NC_000014.7:g.22956667G>T NCBI36
NG_007884.1:g.23044C>A , LRG_384:g.23044C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.4238C>A MANE Select ENSP00000347507.3:p.Ser1413Ter
ENST00000355349.3:c.4238C>A ENSP00000347507.3:p.Ser1413Ter
NM_000257.3:c.4238C>A NP_000248.2:p.Ser1413Ter
XM_017021340.1:c.4238C>A XP_016876829.1:p.Ser1413Ter
NM_000257.4:c.4238C>A MANE Select NP_000248.2:p.Ser1413Ter
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