Canonical Allele Identifier: CA012680

Gene: MYH7

Linked Data

• ClinVar Variation Id: 36636
• ClinVar RCV Id: RCV000464813 ; RCV000590241 ; RCV001184308 ; RCV004018688 ; RCV003133120
• dbSNP Id: rs149576470
• ExAC: 14:23894072 G / A
• gnomAD v2: 14-23894072-G-A
• gnomAD v3: 14-23424863-G-A
• gnomAD v4: 14-23424863-G-A
• MyVariant Identifiers: chr14:g.23894072G>A (hg19) ; chr14:g.23424863G>A (hg38)
• PubMed: PMID:22429680 ; PMID:23299917 ; PMID:23403236

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23424863G>A , CM000676.2:g.23424863G>A	GRCh38
NC_000014.8:g.23894072G>A , CM000676.1:g.23894072G>A	GRCh37
NC_000014.7:g.22963912G>A	NCBI36
NG_007884.1:g.15799C>T , LRG_384:g.15799C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2585C>T MANE Select	ENSP00000347507.3:p.Ala862Val
ENST00000355349.3:c.2585C>T	ENSP00000347507.3:p.Ala862Val
NM_000257.3:c.2585C>T	NP_000248.2:p.Ala862Val
XR_245686.3:n.2691C>T
XM_017021340.1:c.2585C>T	XP_016876829.1:p.Ala862Val
NM_000257.4:c.2585C>T MANE Select	NP_000248.2:p.Ala862Val