Canonical Allele Identifier: CA036102

Gene: MYH7

Linked Data

• ClinVar Variation Id: 2886709
• ClinVar RCV Id: RCV003748679
• dbSNP Id: rs550258745
• ExAC: 14:23891442 C / T
• gnomAD v2: 14-23891442-C-T
• gnomAD v3: 14-23422233-C-T
• gnomAD v4: 14-23422233-C-T
• MyVariant Identifiers: chr14:g.23891442C>T (hg19) ; chr14:g.23422233C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23422233C>T , CM000676.2:g.23422233C>T	GRCh38
NC_000014.8:g.23891442C>T , CM000676.1:g.23891442C>T	GRCh37
NC_000014.7:g.22961282C>T	NCBI36
NG_007884.1:g.18429G>A , LRG_384:g.18429G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3192G>A MANE Select	ENSP00000347507.3:p.Glu1064=
ENST00000355349.3:c.3192G>A	ENSP00000347507.3:p.Glu1064=
NM_000257.3:c.3192G>A	NP_000248.2:p.Glu1064=
XR_245686.3:n.3298G>A
XM_017021340.1:c.3192G>A	XP_016876829.1:p.Glu1064=
NM_000257.4:c.3192G>A MANE Select	NP_000248.2:p.Glu1064=