Canonical Allele Identifier: CA485766954
Gene: MYH7 HGNC NCBI

Linked Data

dbSNP Id: rs1469321541
MyVariant Identifiers: chr14:g.23894964T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23425755T>A , CM000676.2:g.23425755T>A GRCh38
NC_000014.8:g.23894964T>A , CM000676.1:g.23894964T>A GRCh37
NC_000014.7:g.22964804T>A NCBI36
NG_007884.1:g.14907A>T , LRG_384:g.14907A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000355349.4:c.2226A>T MANE Select ENSP00000347507.3:p.Ala742=
ENST00000355349.3:c.2226A>T ENSP00000347507.3:p.Ala742=
NM_000257.3:c.2226A>T NP_000248.2:p.Ala742=
XR_245686.3:n.2332A>T
XM_017021340.1:c.2226A>T XP_016876829.1:p.Ala742=
NM_000257.4:c.2226A>T MANE Select NP_000248.2:p.Ala742=