Canonical Allele Identifier: CA389052152
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1411204822

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23431478T>G , CM000676.2:g.23431478T>G GRCh38
NC_000014.8:g.23900687T>G , CM000676.1:g.23900687T>G GRCh37
NC_000014.7:g.22970527T>G NCBI36
NG_007884.1:g.9184A>C , LRG_384:g.9184A>C

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.736A>C MANE Select ENSP00000347507.3:p.Lys246Gln
ENST00000355349.3:c.736A>C ENSP00000347507.3:p.Lys246Gln
NM_000257.3:c.736A>C NP_000248.2:p.Lys246Gln
XR_245686.3:n.842A>C
XM_017021340.1:c.736A>C XP_016876829.1:p.Lys246Gln
NM_000257.4:c.736A>C MANE Select NP_000248.2:p.Lys246Gln