Canonical Allele Identifier: CA485766812
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2973256
ClinVar RCV Id: RCV003830350
dbSNP Id: rs1427382792
MyVariant Identifiers: chr14:g.23893157G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23423948G>A , CM000676.2:g.23423948G>A GRCh38
NC_000014.8:g.23893157G>A , CM000676.1:g.23893157G>A GRCh37
NC_000014.7:g.22962997G>A NCBI36
NG_007884.1:g.16714C>T , LRG_384:g.16714C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2881C>T MANE Select ENSP00000347507.3:p.Leu961=
ENST00000355349.3:c.2881C>T ENSP00000347507.3:p.Leu961=
NM_000257.3:c.2881C>T NP_000248.2:p.Leu961=
XR_245686.3:n.2987C>T
XM_017021340.1:c.2881C>T XP_016876829.1:p.Leu961=
NM_000257.4:c.2881C>T MANE Select NP_000248.2:p.Leu961=
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