Canonical Allele Identifier: CA389043853
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23420122A>T , CM000676.2:g.23420122A>T GRCh38
NC_000014.8:g.23889331A>T , CM000676.1:g.23889331A>T GRCh37
NC_000014.7:g.22959171A>T NCBI36
NG_007884.1:g.20540T>A , LRG_384:g.20540T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.3449T>A MANE Select ENSP00000347507.3:p.Leu1150Gln
ENST00000355349.3:c.3449T>A ENSP00000347507.3:p.Leu1150Gln
NM_000257.3:c.3449T>A NP_000248.2:p.Leu1150Gln
XM_017021340.1:c.3449T>A XP_016876829.1:p.Leu1150Gln
NM_000257.4:c.3449T>A MANE Select NP_000248.2:p.Leu1150Gln