Canonical Allele Identifier: CA485621983
Gene: MYH7 HGNC NCBI

Linked Data

MyVariant Identifiers: chr14:g.23891511C>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000014.9:g.23422302C>T , CM000676.2:g.23422302C>T GRCh38
NC_000014.8:g.23891511C>T , CM000676.1:g.23891511C>T GRCh37
NC_000014.7:g.22961351C>T NCBI36
NG_007884.1:g.18360G>A , LRG_384:g.18360G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000355349.4:c.3123G>A MANE Select ENSP00000347507.3:p.Glu1041=
ENST00000355349.3:c.3123G>A ENSP00000347507.3:p.Glu1041=
NM_000257.3:c.3123G>A NP_000248.2:p.Glu1041=
XR_245686.3:n.3229G>A
XM_017021340.1:c.3123G>A XP_016876829.1:p.Glu1041=
NM_000257.4:c.3123G>A MANE Select NP_000248.2:p.Glu1041=