Canonical Allele Identifier: CA2123444886
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 2034216
ClinVar RCV Id: RCV002867719
dbSNP Id: rs771345570
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428940G>T , CM000676.2:g.23428940G>T GRCh38
NC_000014.8:g.23898149G>T , CM000676.1:g.23898149G>T GRCh37
NC_000014.7:g.22967989G>T NCBI36
NG_007884.1:g.11722C>A , LRG_384:g.11722C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1407+15C>A MANE Select ENSP00000347507.3:n.1407+15C>A
ENST00000355349.3:c.1407+15C>A ENSP00000347507.3:n.1407+15C>A
NM_000257.3:c.1407+15C>A NP_000248.2:n.1407+15C>A
XR_245686.3:n.1513+15C>A
XM_017021340.1:c.1407+15C>A XP_016876829.1:n.1407+15C>A
NM_000257.4:c.1407+15C>A MANE Select NP_000248.2:n.1407+15C>A
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