Canonical Allele Identifier: CA389045421
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 1315927
ClinVar RCV Id: RCV001757374
dbSNP Id: rs1566529310

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3136A>C MANE Select ENSP00000347507.3:p.Met1046Leu
ENST00000355349.3:c.3136A>C ENSP00000347507.3:p.Met1046Leu
NM_000257.3:c.3136A>C NP_000248.2:p.Met1046Leu
XR_245686.3:n.3242A>C
XM_017021340.1:c.3136A>C XP_016876829.1:p.Met1046Leu
NM_000257.4:c.3136A>C MANE Select NP_000248.2:p.Met1046Leu