Canonical Allele Identifier: CA015959
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 180432
ClinVar RCV Id: RCV000157350 RCV000464574 RCV000225729 RCV000769466
dbSNP Id: rs730880156
gnomAD v2: 14-23901077-C-T
gnomAD v4: 14-23431868-C-T
COSMIC: COSM1128285
MyVariant Identifiers: chr14:g.23901077C>T (hg19) chr14:g.23431868C>T (hg38)
PubMed: PMID:21750094
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431868C>T , CM000676.2:g.23431868C>T GRCh38
NC_000014.8:g.23901077C>T , CM000676.1:g.23901077C>T GRCh37
NC_000014.7:g.22970917C>T NCBI36
NG_007884.1:g.8794G>A , LRG_384:g.8794G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.532G>A MANE Select ENSP00000347507.3:p.Gly178Arg
ENST00000355349.3:c.532G>A ENSP00000347507.3:p.Gly178Arg
NM_000257.3:c.532G>A NP_000248.2:p.Gly178Arg
XR_245686.3:n.638G>A
XM_017021340.1:c.532G>A XP_016876829.1:p.Gly178Arg
NM_000257.4:c.532G>A MANE Select NP_000248.2:p.Gly178Arg
Search 100 bp 5'
Search 100 bp 3'