Canonical Allele Identifier: CA012013
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 14098
ClinVar RCV Id: RCV000015154 RCV000158522 RCV000472342 RCV000621362 RCV001170499 RCV002490371
dbSNP Id: rs121913632
gnomAD v4: 14-23425760-C-G
MyVariant Identifiers: chr14:g.23894969C>G (hg19) chr14:g.23425760C>G (hg38)
ERepo: CA012013/MONDO:0005045/002
PubMed: PMID:7731997 PMID:7883988 PMID:8483915 PMID:8533830 PMID:9140824 PMID:11196015 PMID:12707239 PMID:15358028 PMID:15563892 PMID:20031618 PMID:22555271 PMID:23396983 PMID:24093860 PMID:24111713 PMID:25351510 PMID:25935763 PMID:29300372
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425760C>G , CM000676.2:g.23425760C>G GRCh38
NC_000014.8:g.23894969C>G , CM000676.1:g.23894969C>G GRCh37
NC_000014.7:g.22964809C>G NCBI36
NG_007884.1:g.14902G>C , LRG_384:g.14902G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2221G>C MANE Select ENSP00000347507.3:p.Gly741Arg
ENST00000355349.3:c.2221G>C ENSP00000347507.3:p.Gly741Arg
NM_000257.3:c.2221G>C NP_000248.2:p.Gly741Arg
XR_245686.3:n.2327G>C
XM_017021340.1:c.2221G>C XP_016876829.1:p.Gly741Arg
NM_000257.4:c.2221G>C MANE Select NP_000248.2:p.Gly741Arg
Search 100 bp 5'
Search 100 bp 3'