Canonical Allele Identifier: CA046896

Gene: MYH7

Linked Data

• ClinVar Variation Id: 237440
• ClinVar RCV Id: RCV000231266 ; RCV000242169 ; RCV001190659 ; RCV001495650
• dbSNP Id: rs368848344
• ExAC: 14:23884282 C / T
• gnomAD v2: 14-23884282-C-T
• gnomAD v3: 14-23415073-C-T
• gnomAD v4: 14-23415073-C-T
• MyVariant Identifiers: chr14:g.23884282C>T (hg19) ; chr14:g.23415073C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415073C>T , CM000676.2:g.23415073C>T	GRCh38
NC_000014.8:g.23884282C>T , CM000676.1:g.23884282C>T	GRCh37
NC_000014.7:g.22954122C>T	NCBI36
NG_007884.1:g.25589G>A , LRG_384:g.25589G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5481G>A MANE Select	ENSP00000347507.3:p.Glu1827=
ENST00000355349.3:c.5481G>A	ENSP00000347507.3:p.Glu1827=
NM_000257.3:c.5481G>A	NP_000248.2:p.Glu1827=
XM_017021340.1:c.5481G>A	XP_016876829.1:p.Glu1827=
NM_000257.4:c.5481G>A MANE Select	NP_000248.2:p.Glu1827=