Canonical Allele Identifier: CA389052114
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1316213
ClinVar RCV Id: RCV001766119
dbSNP Id: rs2138681275
MyVariant Identifiers: chr14:g.23900666C>G (hg19) chr14:g.23431457C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431457C>G , CM000676.2:g.23431457C>G GRCh38
NC_000014.8:g.23900666C>G , CM000676.1:g.23900666C>G GRCh37
NC_000014.7:g.22970506C>G NCBI36
NG_007884.1:g.9205G>C , LRG_384:g.9205G>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.757G>C MANE Select ENSP00000347507.3:p.Gly253Arg
ENST00000355349.3:c.757G>C ENSP00000347507.3:p.Gly253Arg
NM_000257.3:c.757G>C NP_000248.2:p.Gly253Arg
XR_245686.3:n.863G>C
XM_017021340.1:c.757G>C XP_016876829.1:p.Gly253Arg
NM_000257.4:c.757G>C MANE Select NP_000248.2:p.Gly253Arg
Search 100 bp 5'
Search 100 bp 3'