Canonical Allele Identifier: CA389050748
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1892810195

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23428983A>C , CM000676.2:g.23428983A>C GRCh38
NC_000014.8:g.23898192A>C , CM000676.1:g.23898192A>C GRCh37
NC_000014.7:g.22968032A>C NCBI36
NG_007884.1:g.11679T>G , LRG_384:g.11679T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1379T>G MANE Select ENSP00000347507.3:p.Leu460Arg
ENST00000355349.3:c.1379T>G ENSP00000347507.3:p.Leu460Arg
NM_000257.3:c.1379T>G NP_000248.2:p.Leu460Arg
XR_245686.3:n.1485T>G
XM_017021340.1:c.1379T>G XP_016876829.1:p.Leu460Arg
NM_000257.4:c.1379T>G MANE Select NP_000248.2:p.Leu460Arg