Canonical Allele Identifier: CA389045120
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1475638
ClinVar RCV Id: RCV002007920 RCV003170300
dbSNP Id: rs767369809
gnomAD v3: 14-23422200-C-G
gnomAD v4: 14-23422200-C-G
MyVariant Identifiers: chr14:g.23891409C>G (hg19) chr14:g.23422200C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422200C>G , CM000676.2:g.23422200C>G GRCh38
NC_000014.8:g.23891409C>G , CM000676.1:g.23891409C>G GRCh37
NC_000014.7:g.22961249C>G NCBI36
NG_007884.1:g.18462G>C , LRG_384:g.18462G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3225G>C MANE Select ENSP00000347507.3:p.Gln1075His
ENST00000355349.3:c.3225G>C ENSP00000347507.3:p.Gln1075His
NM_000257.3:c.3225G>C NP_000248.2:p.Gln1075His
XR_245686.3:n.3331G>C
XM_017021340.1:c.3225G>C XP_016876829.1:p.Gln1075His
NM_000257.4:c.3225G>C MANE Select NP_000248.2:p.Gln1075His
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