Canonical Allele Identifier: CA389042770
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 803009
ClinVar RCV Id: RCV002549722
dbSNP Id: rs727503249
gnomAD v4: 14-23419588-G-C
MyVariant Identifiers: chr14:g.23888797G>C (hg19) chr14:g.23419588G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23419588G>C , CM000676.2:g.23419588G>C GRCh38
NC_000014.8:g.23888797G>C , CM000676.1:g.23888797G>C GRCh37
NC_000014.7:g.22958637G>C NCBI36
NG_007884.1:g.21074C>G , LRG_384:g.21074C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3748C>G MANE Select ENSP00000347507.3:p.Arg1250Gly
ENST00000355349.3:c.3748C>G ENSP00000347507.3:p.Arg1250Gly
NM_000257.3:c.3748C>G NP_000248.2:p.Arg1250Gly
XM_017021340.1:c.3748C>G XP_016876829.1:p.Arg1250Gly
NM_000257.4:c.3748C>G MANE Select NP_000248.2:p.Arg1250Gly
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Search 100 bp 3'