Canonical Allele Identifier: CA039283

Gene: MYH7

Linked Data

• ClinVar Variation Id: 432208
• ClinVar RCV Id: RCV000497784 ; RCV001188966 ; RCV002060087
• dbSNP Id: rs371212384
• ExAC: 14:23888518 A / C
• gnomAD v2: 14-23888518-A-C
• gnomAD v3: 14-23419309-A-C
• gnomAD v4: 14-23419309-A-C
• MyVariant Identifiers: chr14:g.23888518A>C (hg19) ; chr14:g.23419309A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23419309A>C , CM000676.2:g.23419309A>C	GRCh38
NC_000014.8:g.23888518A>C , CM000676.1:g.23888518A>C	GRCh37
NC_000014.7:g.22958358A>C	NCBI36
NG_007884.1:g.21353T>G , LRG_384:g.21353T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3854-14T>G MANE Select	ENSP00000347507.3:n.3854-14T>G
ENST00000355349.3:c.3854-14T>G	ENSP00000347507.3:n.3854-14T>G
NM_000257.3:c.3854-14T>G	NP_000248.2:n.3854-14T>G
XM_017021340.1:c.3854-14T>G	XP_016876829.1:n.3854-14T>G
NM_000257.4:c.3854-14T>G MANE Select	NP_000248.2:n.3854-14T>G