Canonical Allele Identifier: CA028229

Gene: MYH7

Linked Data

• ClinVar Variation Id: 924115
• ClinVar RCV Id: RCV001185284 ; RCV002068408
• dbSNP Id: rs147327560
• ExAC: 14:23898233 G / A
• gnomAD v2: 14-23898233-G-A
• gnomAD v3: 14-23429024-G-A
• gnomAD v4: 14-23429024-G-A
• MyVariant Identifiers: chr14:g.23898233G>A (hg19) ; chr14:g.23429024G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23429024G>A , CM000676.2:g.23429024G>A	GRCh38
NC_000014.8:g.23898233G>A , CM000676.1:g.23898233G>A	GRCh37
NC_000014.7:g.22968073G>A	NCBI36
NG_007884.1:g.11638C>T , LRG_384:g.11638C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.1338C>T MANE Select	ENSP00000347507.3:p.Thr446=
ENST00000355349.3:c.1338C>T	ENSP00000347507.3:p.Thr446=
NM_000257.3:c.1338C>T	NP_000248.2:p.Thr446=
XR_245686.3:n.1444C>T
XM_017021340.1:c.1338C>T	XP_016876829.1:p.Thr446=
NM_000257.4:c.1338C>T MANE Select	NP_000248.2:p.Thr446=