Canonical Allele Identifier: CA389045419
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 626818
ClinVar RCV Id: RCV000770483
dbSNP Id: rs1566529310
gnomAD v4: 14-23422289-T-C
MyVariant Identifiers: chr14:g.23891498T>C (hg19) chr14:g.23422289T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422289T>C , CM000676.2:g.23422289T>C GRCh38
NC_000014.8:g.23891498T>C , CM000676.1:g.23891498T>C GRCh37
NC_000014.7:g.22961338T>C NCBI36
NG_007884.1:g.18373A>G , LRG_384:g.18373A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3136A>G MANE Select ENSP00000347507.3:p.Met1046Val
ENST00000355349.3:c.3136A>G ENSP00000347507.3:p.Met1046Val
NM_000257.3:c.3136A>G NP_000248.2:p.Met1046Val
XR_245686.3:n.3242A>G
XM_017021340.1:c.3136A>G XP_016876829.1:p.Met1046Val
NM_000257.4:c.3136A>G MANE Select NP_000248.2:p.Met1046Val
Search 100 bp 5'
Search 100 bp 3'