Canonical Allele Identifier: CA10587778
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 264607
ClinVar RCV Id: RCV000243487 RCV000553630 RCV001180069 RCV001529540
dbSNP Id: rs564101364
gnomAD v2: 14-23897049-C-T
gnomAD v3: 14-23427840-C-T
gnomAD v4: 14-23427840-C-T
COSMIC: COSM2031853
MyVariant Identifiers: chr14:g.23897049C>T (hg19) chr14:g.23427840C>T (hg38)
PubMed: PMID:17947214 PMID:20952769 PMID:23349452 PMID:25332820
ERepo: CA10587778/MONDO:0005021/002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23427840C>T , CM000676.2:g.23427840C>T GRCh38
NC_000014.8:g.23897049C>T , CM000676.1:g.23897049C>T GRCh37
NC_000014.7:g.22966889C>T NCBI36
NG_007884.1:g.12822G>A , LRG_384:g.12822G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1633G>A MANE Select ENSP00000347507.3:p.Asp545Asn
ENST00000355349.3:c.1633G>A ENSP00000347507.3:p.Asp545Asn
NM_000257.3:c.1633G>A NP_000248.2:p.Asp545Asn
XR_245686.3:n.1739G>A
XM_017021340.1:c.1633G>A XP_016876829.1:p.Asp545Asn
NM_000257.4:c.1633G>A MANE Select NP_000248.2:p.Asp545Asn
Search 100 bp 5'
Search 100 bp 3'