Canonical Allele Identifier: CA012535
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 42912
ClinVar RCV Id: RCV000035801 RCV000148956 RCV000766435 RCV001317561 RCV001798097
dbSNP Id: rs397516154
gnomAD v4: 14-23424923-C-T
MyVariant Identifiers: chr14:g.23894132C>T (hg19) chr14:g.23424923C>T (hg38)
ERepo: CA012535/MONDO:0005045/002
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23424923C>T , CM000676.2:g.23424923C>T GRCh38
NC_000014.8:g.23894132C>T , CM000676.1:g.23894132C>T GRCh37
NC_000014.7:g.22963972C>T NCBI36
NG_007884.1:g.15739G>A , LRG_384:g.15739G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2525G>A MANE Select ENSP00000347507.3:p.Ser842Asn
ENST00000355349.3:c.2525G>A ENSP00000347507.3:p.Ser842Asn
NM_000257.3:c.2525G>A NP_000248.2:p.Ser842Asn
XR_245686.3:n.2631G>A
XM_017021340.1:c.2525G>A XP_016876829.1:p.Ser842Asn
NM_000257.4:c.2525G>A MANE Select NP_000248.2:p.Ser842Asn
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