Canonical Allele Identifier: CA012811
Gene: MYH7 HGNC NCBI

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
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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
Search 100 bp 5'
Search 100 bp 3'