Canonical Allele Identifier: CA014687
Gene: MYH7 HGNC NCBI

Linked Data

ClinVar Variation Id: 181250
dbSNP Id: rs730880796

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23417618G>A , CM000676.2:g.23417618G>A GRCh38
NC_000014.8:g.23886827G>A , CM000676.1:g.23886827G>A GRCh37
NC_000014.7:g.22956667G>A NCBI36
NG_007884.1:g.23044C>T , LRG_384:g.23044C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.4238C>T MANE Select ENSP00000347507.3:p.Ser1413Leu
ENST00000355349.3:c.4238C>T ENSP00000347507.3:p.Ser1413Leu
NM_000257.3:c.4238C>T NP_000248.2:p.Ser1413Leu
XM_017021340.1:c.4238C>T XP_016876829.1:p.Ser1413Leu
NM_000257.4:c.4238C>T MANE Select NP_000248.2:p.Ser1413Leu