Canonical Allele Identifier: CA017003

Gene: MYH7

Linked Data

• ClinVar Variation Id: 161328
• ClinVar RCV Id: RCV000148711 ; RCV000201440 ; RCV000223879 ; RCV000549661
• dbSNP Id: rs376897125
• ExAC: 14:23899810 C / T
• gnomAD v2: 14-23899810-C-T
• gnomAD v3: 14-23430601-C-T
• gnomAD v4: 14-23430601-C-T
• COSMIC: COSM2031871
• MyVariant Identifiers: chr14:g.23899810C>T (hg19) ; chr14:g.23430601C>T (hg38)
• PubMed: PMID:12566107 ; PMID:21239446 ; PMID:22857948 ; PMID:23197161

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23430601C>T , CM000676.2:g.23430601C>T	GRCh38
NC_000014.8:g.23899810C>T , CM000676.1:g.23899810C>T	GRCh37
NC_000014.7:g.22969650C>T	NCBI36
NG_007884.1:g.10061G>A , LRG_384:g.10061G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.958G>A MANE Select	ENSP00000347507.3:p.Val320Met
ENST00000355349.3:c.958G>A	ENSP00000347507.3:p.Val320Met
NM_000257.3:c.958G>A	NP_000248.2:p.Val320Met
XR_245686.3:n.1064G>A
XM_017021340.1:c.958G>A	XP_016876829.1:p.Val320Met
NM_000257.4:c.958G>A MANE Select	NP_000248.2:p.Val320Met