Canonical Allele Identifier: CA012723

Gene: MYH7

Linked Data

• ClinVar Variation Id: 177667
• ClinVar RCV Id: RCV000458948 ; RCV000587299 ; RCV000709745 ; RCV000845415 ; RCV001189960 ; RCV002426734 ; RCV002498735
• dbSNP Id: rs202141173
• ExAC: 14:23894051 C / T
• gnomAD v2: 14-23894051-C-T
• gnomAD v3: 14-23424842-C-T
• gnomAD v4: 14-23424842-C-T
• COSMIC: COSM4050071
• MyVariant Identifiers: chr14:g.23894051C>T (hg19) ; chr14:g.23424842C>T (hg38)
• PubMed: PMID:15358028 ; PMID:15563892 ; PMID:16858239 ; PMID:17180650 ; PMID:18533079 ; PMID:20359594 ; PMID:21835320 ; PMID:22763267 ; PMID:23674513 ; PMID:24793961 ; PMID:25078086 ; PMID:25524337 ; PMID:27247418 ; PMID:27532257
• ERepo: CA012723/MONDO:0005045/002

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23424842C>T , CM000676.2:g.23424842C>T	GRCh38
NC_000014.8:g.23894051C>T , CM000676.1:g.23894051C>T	GRCh37
NC_000014.7:g.22963891C>T	NCBI36
NG_007884.1:g.15820G>A , LRG_384:g.15820G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2606G>A MANE Select	ENSP00000347507.3:p.Arg869His
ENST00000355349.3:c.2606G>A	ENSP00000347507.3:p.Arg869His
NM_000257.3:c.2606G>A	NP_000248.2:p.Arg869His
XR_245686.3:n.2712G>A
XM_017021340.1:c.2606G>A	XP_016876829.1:p.Arg869His
NM_000257.4:c.2606G>A MANE Select	NP_000248.2:p.Arg869His