Canonical Allele Identifier: CA389040347
Gene: MYH7 HGNC NCBI

Linked Data

COSMIC: COSM358824

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417604T>G , CM000676.2:g.23417604T>G GRCh38
NC_000014.8:g.23886813T>G , CM000676.1:g.23886813T>G GRCh37
NC_000014.7:g.22956653T>G NCBI36
NG_007884.1:g.23058A>C , LRG_384:g.23058A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4252A>C MANE Select ENSP00000347507.3:p.Lys1418Gln
ENST00000355349.3:c.4252A>C ENSP00000347507.3:p.Lys1418Gln
NM_000257.3:c.4252A>C NP_000248.2:p.Lys1418Gln
XM_017021340.1:c.4252A>C XP_016876829.1:p.Lys1418Gln
NM_000257.4:c.4252A>C MANE Select NP_000248.2:p.Lys1418Gln