Canonical Allele Identifier: CA389044217
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 925006
ClinVar RCV Id: RCV001186740
dbSNP Id: rs1204830698
MyVariant Identifiers: chr14:g.23889440G>T (hg19) chr14:g.23420231G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420231G>T , CM000676.2:g.23420231G>T GRCh38
NC_000014.8:g.23889440G>T , CM000676.1:g.23889440G>T GRCh37
NC_000014.7:g.22959280G>T NCBI36
NG_007884.1:g.20431C>A , LRG_384:g.20431C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3340C>A MANE Select ENSP00000347507.3:p.Arg1114Ser
ENST00000355349.3:c.3340C>A ENSP00000347507.3:p.Arg1114Ser
NM_000257.3:c.3340C>A NP_000248.2:p.Arg1114Ser
XR_245686.3:n.3448C>A
XM_017021340.1:c.3340C>A XP_016876829.1:p.Arg1114Ser
NM_000257.4:c.3340C>A MANE Select NP_000248.2:p.Arg1114Ser
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Search 100 bp 3'