Canonical Allele Identifier: CA039288

Gene: MYH7

Linked Data

• ClinVar Variation Id: 1243446
• ClinVar RCV Id: RCV001645607
• dbSNP Id: rs146118180
• ExAC: 14:23888535 C / G
• gnomAD v2: 14-23888535-C-G
• gnomAD v3: 14-23419326-C-G
• gnomAD v4: 14-23419326-C-G
• MyVariant Identifiers: chr14:g.23888535C>G (hg19) ; chr14:g.23419326C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419326C>G , CM000676.2:g.23419326C>G	GRCh38
NC_000014.8:g.23888535C>G , CM000676.1:g.23888535C>G	GRCh37
NC_000014.7:g.22958375C>G	NCBI36
NG_007884.1:g.21336G>C , LRG_384:g.21336G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3854-31G>C MANE Select	ENSP00000347507.3:n.3854-31G>C
ENST00000355349.3:c.3854-31G>C	ENSP00000347507.3:n.3854-31G>C
NM_000257.3:c.3854-31G>C	NP_000248.2:n.3854-31G>C
XM_017021340.1:c.3854-31G>C	XP_016876829.1:n.3854-31G>C
NM_000257.4:c.3854-31G>C MANE Select	NP_000248.2:n.3854-31G>C