Canonical Allele Identifier: CA011178

Gene: MYH7

Linked Data

• ClinVar Variation Id: 42862
• ClinVar RCV Id: RCV000035743 ; RCV000229519 ; RCV000242011 ; RCV000709746 ; RCV000788633 ; RCV003149621
• dbSNP Id: rs121913626
• gnomAD v3: 14-23427723-C-T
• gnomAD v4: 14-23427723-C-T
• COSMIC: COSM4972151
• MyVariant Identifiers: chr14:g.23896932C>T (hg19) ; chr14:g.23427723C>T (hg38)
• PubMed: PMID:1552912 ; PMID:7731997 ; PMID:12974739 ; PMID:23283745 ; PMID:24510615 ; PMID:27247418

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23427723C>T , CM000676.2:g.23427723C>T	GRCh38
NC_000014.8:g.23896932C>T , CM000676.1:g.23896932C>T	GRCh37
NC_000014.7:g.22966772C>T	NCBI36
NG_007884.1:g.12939G>A , LRG_384:g.12939G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.1750G>A MANE Select	ENSP00000347507.3:p.Gly584Ser
ENST00000355349.3:c.1750G>A	ENSP00000347507.3:p.Gly584Ser
NM_000257.3:c.1750G>A	NP_000248.2:p.Gly584Ser
XR_245686.3:n.1856G>A
XM_017021340.1:c.1750G>A	XP_016876829.1:p.Gly584Ser
NM_000257.4:c.1750G>A MANE Select	NP_000248.2:p.Gly584Ser