Canonical Allele Identifier: CA016040
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 43067
ClinVar RCV Id: RCV000035962 RCV000158697 RCV000471537 RCV000770470
dbSNP Id: rs397516247
MyVariant Identifiers: chr14:g.23884383G>C (hg19) chr14:g.23415174G>C (hg38)
PubMed: PMID:20474083 PMID:22464770
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23415174G>C , CM000676.2:g.23415174G>C GRCh38
NC_000014.8:g.23884383G>C , CM000676.1:g.23884383G>C GRCh37
NC_000014.7:g.22954223G>C NCBI36
NG_007884.1:g.25488C>G , LRG_384:g.25488C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.5380C>G MANE Select ENSP00000347507.3:p.Gln1794Glu
ENST00000355349.3:c.5380C>G ENSP00000347507.3:p.Gln1794Glu
NM_000257.3:c.5380C>G NP_000248.2:p.Gln1794Glu
XM_017021340.1:c.5380C>G XP_016876829.1:p.Gln1794Glu
NM_000257.4:c.5380C>G MANE Select NP_000248.2:p.Gln1794Glu
Search 100 bp 5'
Search 100 bp 3'