Canonical Allele Identifier: CA1139663359
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 915539
ClinVar RCV Id: RCV001170279
dbSNP Id: rs1892665943
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425685C>T , CM000676.2:g.23425685C>T GRCh38
NC_000014.8:g.23894894C>T , CM000676.1:g.23894894C>T GRCh37
NC_000014.7:g.22964734C>T NCBI36
NG_007884.1:g.14977G>A , LRG_384:g.14977G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2286+10G>A MANE Select ENSP00000347507.3:n.2286+10G>A
ENST00000355349.3:c.2286+10G>A ENSP00000347507.3:n.2286+10G>A
NM_000257.3:c.2286+10G>A NP_000248.2:n.2286+10G>A
XR_245686.3:n.2392+10G>A
XM_017021340.1:c.2286+10G>A XP_016876829.1:n.2286+10G>A
NM_000257.4:c.2286+10G>A MANE Select NP_000248.2:n.2286+10G>A
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