Canonical Allele Identifier: CA012811

Gene: MYH7

Linked Data

• ClinVar Variation Id: 177763
• ClinVar RCV Id: RCV000487427 ; RCV000795089 ; RCV001699209 ; RCV002426736 ; RCV003486688 ; RCV004532744
• dbSNP Id: rs727503254
• gnomAD v4: 14-23424770-G-A
• COSMIC: COSM4050070
• MyVariant Identifiers: chr14:g.23893979G>A (hg19) ; chr14:g.23424770G>A (hg38)
• PubMed: PMID:22464770 ; PMID:23054336 ; PMID:27532257 ; PMID:29300372
• ERepo: CA012811/MONDO:0005021/002

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23424770G>A , CM000676.2:g.23424770G>A	GRCh38
NC_000014.8:g.23893979G>A , CM000676.1:g.23893979G>A	GRCh37
NC_000014.7:g.22963819G>A	NCBI36
NG_007884.1:g.15892C>T , LRG_384:g.15892C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2678C>T MANE Select	ENSP00000347507.3:p.Ala893Val
ENST00000355349.3:c.2678C>T	ENSP00000347507.3:p.Ala893Val
NM_000257.3:c.2678C>T	NP_000248.2:p.Ala893Val
XR_245686.3:n.2784C>T
XM_017021340.1:c.2678C>T	XP_016876829.1:p.Ala893Val
NM_000257.4:c.2678C>T MANE Select	NP_000248.2:p.Ala893Val