Canonical Allele Identifier: CA485622012
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1331833
ClinVar RCV Id: RCV001804349
dbSNP Id: rs1892507072
gnomAD v4: 14-23422311-C-T
MyVariant Identifiers: chr14:g.23891520C>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422311C>T , CM000676.2:g.23422311C>T GRCh38
NC_000014.8:g.23891520C>T , CM000676.1:g.23891520C>T GRCh37
NC_000014.7:g.22961360C>T NCBI36
NG_007884.1:g.18351G>A , LRG_384:g.18351G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3114G>A MANE Select ENSP00000347507.3:p.Leu1038=
ENST00000355349.3:c.3114G>A ENSP00000347507.3:p.Leu1038=
NM_000257.3:c.3114G>A NP_000248.2:p.Leu1038=
XR_245686.3:n.3220G>A
XM_017021340.1:c.3114G>A XP_016876829.1:p.Leu1038=
NM_000257.4:c.3114G>A MANE Select NP_000248.2:p.Leu1038=
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