Canonical Allele Identifier: CA016240

Gene: MYH7

Linked Data

• ClinVar Variation Id: 43074
• ClinVar RCV Id: RCV000035969 ; RCV000874999 ; RCV001079534 ; RCV004541082
• dbSNP Id: rs377473156
• ExAC: 14:23884196 C / T
• gnomAD v2: 14-23884196-C-T
• gnomAD v3: 14-23414987-C-T
• gnomAD v4: 14-23414987-C-T
• MyVariant Identifiers: chr14:g.23884196C>T (hg19) ; chr14:g.23414987C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23414987C>T , CM000676.2:g.23414987C>T	GRCh38
NC_000014.8:g.23884196C>T , CM000676.1:g.23884196C>T	GRCh37
NC_000014.7:g.22954036C>T	NCBI36
NG_007884.1:g.25675G>A , LRG_384:g.25675G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5559+8G>A MANE Select	ENSP00000347507.3:n.5559+8G>A
ENST00000355349.3:c.5559+8G>A	ENSP00000347507.3:n.5559+8G>A
NM_000257.3:c.5559+8G>A	NP_000248.2:n.5559+8G>A
XM_017021340.1:c.5559+8G>A	XP_016876829.1:n.5559+8G>A
NM_000257.4:c.5559+8G>A MANE Select	NP_000248.2:n.5559+8G>A