Canonical Allele Identifier: CA389051123
Gene: MYH7 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23429281G>A , CM000676.2:g.23429281G>A GRCh38
NC_000014.8:g.23898490G>A , CM000676.1:g.23898490G>A GRCh37
NC_000014.7:g.22968330G>A NCBI36
NG_007884.1:g.11381C>T , LRG_384:g.11381C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.1205C>T MANE Select ENSP00000347507.3:p.Pro402Leu
ENST00000355349.3:c.1205C>T ENSP00000347507.3:p.Pro402Leu
NM_000257.3:c.1205C>T NP_000248.2:p.Pro402Leu
XR_245686.3:n.1311C>T
XM_017021340.1:c.1205C>T XP_016876829.1:p.Pro402Leu
NM_000257.4:c.1205C>T MANE Select NP_000248.2:p.Pro402Leu