Canonical Allele Identifier: CA485767353
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1141868
ClinVar RCV Id: RCV001479430
dbSNP Id: rs1219883935
gnomAD v3: 14-23431642-A-C
gnomAD v4: 14-23431642-A-C
MyVariant Identifiers: chr14:g.23900851A>C (hg19) chr14:g.23431642A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431642A>C , CM000676.2:g.23431642A>C GRCh38
NC_000014.8:g.23900851A>C , CM000676.1:g.23900851A>C GRCh37
NC_000014.7:g.22970691A>C NCBI36
NG_007884.1:g.9020T>G , LRG_384:g.9020T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.675T>G MANE Select ENSP00000347507.3:p.Pro225=
ENST00000355349.3:c.675T>G ENSP00000347507.3:p.Pro225=
NM_000257.3:c.675T>G NP_000248.2:p.Pro225=
XR_245686.3:n.781T>G
XM_017021340.1:c.675T>G XP_016876829.1:p.Pro225=
NM_000257.4:c.675T>G MANE Select NP_000248.2:p.Pro225=
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