Canonical Allele Identifier: CA012904

Gene: MYH7

Linked Data

• ClinVar Variation Id: 164316
• ClinVar RCV Id: RCV000208124 ; RCV000240635 ; RCV000685493 ; RCV001537865 ; RCV002426717
• dbSNP Id: rs727503253
• ExAC: 14:23893328 G / A
• gnomAD v2: 14-23893328-G-A
• gnomAD v4: 14-23424119-G-A
• COSMIC: COSM1258462
• MyVariant Identifiers: chr14:g.23893328G>A (hg19) ; chr14:g.23424119G>A (hg38)
• PubMed: PMID:20573160 ; PMID:21750094 ; PMID:23349452 ; PMID:27532257 ; PMID:29212898
• ERepo: CA012904/MONDO:0005021/002

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23424119G>A , CM000676.2:g.23424119G>A	GRCh38
NC_000014.8:g.23893328G>A , CM000676.1:g.23893328G>A	GRCh37
NC_000014.7:g.22963168G>A	NCBI36
NG_007884.1:g.16543C>T , LRG_384:g.16543C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2710C>T MANE Select	ENSP00000347507.3:p.Arg904Cys
ENST00000355349.3:c.2710C>T	ENSP00000347507.3:p.Arg904Cys
NM_000257.3:c.2710C>T	NP_000248.2:p.Arg904Cys
XR_245686.3:n.2816C>T
XM_017021340.1:c.2710C>T	XP_016876829.1:p.Arg904Cys
NM_000257.4:c.2710C>T MANE Select	NP_000248.2:p.Arg904Cys