Allele Registry

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Canonical Allele Identifier: CA016592

Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 132935

ClinVar RCV Id: RCV000148984

dbSNP Id: rs369187721

MyVariant Identifiers: chr14:g.23900939G>T (hg19) chr14:g.23431730G>T (hg38)

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Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23431730G>T , CM000676.2:g.23431730G>T	GRCh38
NC_000014.8:g.23900939G>T , CM000676.1:g.23900939G>T	GRCh37
NC_000014.7:g.22970779G>T	NCBI36
NG_007884.1:g.8932C>A , LRG_384:g.8932C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.639+31C>A MANE Select	ENSP00000347507.3:n.639+31C>A
ENST00000355349.3:c.639+31C>A	ENSP00000347507.3:n.639+31C>A
NM_000257.3:c.639+31C>A	NP_000248.2:n.639+31C>A
XR_245686.3:n.745+31C>A
XM_017021340.1:c.639+31C>A	XP_016876829.1:n.639+31C>A
NM_000257.4:c.639+31C>A MANE Select	NP_000248.2:n.639+31C>A

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