Canonical Allele Identifier: CA016961

Gene: MYH7

Linked Data

• ClinVar Variation Id: 181402
• ClinVar RCV Id: RCV000158882 ; RCV000584771 ; RCV000536809 ; RCV001187174 ; RCV001270160
• dbSNP Id: rs730880923
• ExAC: 14:23899843 C / T
• gnomAD v2: 14-23899843-C-T
• gnomAD v3: 14-23430634-C-T
• gnomAD v4: 14-23430634-C-T
• MyVariant Identifiers: chr14:g.23899843C>T (hg19) ; chr14:g.23430634C>T (hg38)
• PubMed: PMID:1472461 ; PMID:8490051 ; PMID:23233322 ; PMID:27532257

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23430634C>T , CM000676.2:g.23430634C>T	GRCh38
NC_000014.8:g.23899843C>T , CM000676.1:g.23899843C>T	GRCh37
NC_000014.7:g.22969683C>T	NCBI36
NG_007884.1:g.10028G>A , LRG_384:g.10028G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.925G>A MANE Select	ENSP00000347507.3:p.Asp309Asn
ENST00000355349.3:c.925G>A	ENSP00000347507.3:p.Asp309Asn
NM_000257.3:c.925G>A	NP_000248.2:p.Asp309Asn
XR_245686.3:n.1031G>A
XM_017021340.1:c.925G>A	XP_016876829.1:p.Asp309Asn
NM_000257.4:c.925G>A MANE Select	NP_000248.2:p.Asp309Asn