Canonical Allele Identifier: CA389051107
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429270C>G , CM000676.2:g.23429270C>G GRCh38
NC_000014.8:g.23898479C>G , CM000676.1:g.23898479C>G GRCh37
NC_000014.7:g.22968319C>G NCBI36
NG_007884.1:g.11392G>C , LRG_384:g.11392G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1216G>C MANE Select ENSP00000347507.3:p.Val406Leu
ENST00000355349.3:c.1216G>C ENSP00000347507.3:p.Val406Leu
NM_000257.3:c.1216G>C NP_000248.2:p.Val406Leu
XR_245686.3:n.1322G>C
XM_017021340.1:c.1216G>C XP_016876829.1:p.Val406Leu
NM_000257.4:c.1216G>C MANE Select NP_000248.2:p.Val406Leu