Canonical Allele Identifier: CA011851

Gene: MYH7

Linked Data

• ClinVar Variation Id: 14095
• ClinVar RCV Id: RCV000015151 ; RCV000035772 ; RCV000158516 ; RCV000253053 ; RCV000462477 ; RCV001186219 ; RCV002496365
• dbSNP Id: rs121913630
• ExAC: 14:23895023 G / A
• gnomAD v2: 14-23895023-G-A
• gnomAD v3: 14-23425814-G-A
• gnomAD v4: 14-23425814-G-A
• MyVariant Identifiers: chr14:g.23895023G>A (hg19) ; chr14:g.23425814G>A (hg38)
• PubMed: PMID:1430197 ; PMID:7731997 ; PMID:9829907 ; PMID:12117842 ; PMID:12707239 ; PMID:16199542 ; PMID:20359594 ; PMID:21835320 ; PMID:23074333 ; PMID:24510615 ; PMID:25239116 ; PMID:25351510 ; PMID:25935763 ; PMID:29300372
• ERepo: CA011851/MONDO:0005045/002

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23425814G>A , CM000676.2:g.23425814G>A	GRCh38
NC_000014.8:g.23895023G>A , CM000676.1:g.23895023G>A	GRCh37
NC_000014.7:g.22964863G>A	NCBI36
NG_007884.1:g.14848C>T , LRG_384:g.14848C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.2167C>T MANE Select	ENSP00000347507.3:p.Arg723Cys
ENST00000355349.3:c.2167C>T	ENSP00000347507.3:p.Arg723Cys
NM_000257.3:c.2167C>T	NP_000248.2:p.Arg723Cys
XR_245686.3:n.2273C>T
XM_017021340.1:c.2167C>T	XP_016876829.1:p.Arg723Cys
NM_000257.4:c.2167C>T MANE Select	NP_000248.2:p.Arg723Cys