Canonical Allele Identifier: CA012108
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 164337
ClinVar RCV Id: RCV000151276 RCV000158526 RCV000462424 RCV000578019 RCV000621337 RCV003149920
dbSNP Id: rs727503260
gnomAD v4: 14-23425403-C-T
MyVariant Identifiers: chr14:g.23894612C>T (hg19) chr14:g.23425403C>T (hg38)
PubMed: PMID:12707239 PMID:17125710 PMID:18076673 PMID:20394946 PMID:20800588 PMID:22260945 PMID:23549607 PMID:23690394 PMID:25524337 PMID:25611685 PMID:25935763 PMID:27247418 PMID:27532257 PMID:27600940
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425403C>T , CM000676.2:g.23425403C>T GRCh38
NC_000014.8:g.23894612C>T , CM000676.1:g.23894612C>T GRCh37
NC_000014.7:g.22964452C>T NCBI36
NG_007884.1:g.15259G>A , LRG_384:g.15259G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.2302G>A MANE Select ENSP00000347507.3:p.Gly768Arg
ENST00000355349.3:c.2302G>A ENSP00000347507.3:p.Gly768Arg
NM_000257.3:c.2302G>A NP_000248.2:p.Gly768Arg
XR_245686.3:n.2408G>A
XM_017021340.1:c.2302G>A XP_016876829.1:p.Gly768Arg
NM_000257.4:c.2302G>A MANE Select NP_000248.2:p.Gly768Arg
Search 100 bp 5'
Search 100 bp 3'