Canonical Allele Identifier: CA16606540
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 393205
ClinVar RCV Id: RCV001861646
dbSNP Id: rs374466146
MyVariant Identifiers: chr14:g.23901906G>C (hg19) chr14:g.23432697G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23432697G>C , CM000676.2:g.23432697G>C GRCh38
NC_000014.8:g.23901906G>C , CM000676.1:g.23901906G>C GRCh37
NC_000014.7:g.22971746G>C NCBI36
NG_007884.1:g.7965C>G , LRG_384:g.7965C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.444C>G MANE Select ENSP00000347507.3:p.Ser148Arg
ENST00000355349.3:c.444C>G ENSP00000347507.3:p.Ser148Arg
NM_000257.3:c.444C>G NP_000248.2:p.Ser148Arg
XR_245686.3:n.550C>G
XM_017021340.1:c.444C>G XP_016876829.1:p.Ser148Arg
NM_000257.4:c.444C>G MANE Select NP_000248.2:p.Ser148Arg
Search 100 bp 5'
Search 100 bp 3'