Canonical Allele Identifier: CA485766955

Gene: MYH7

Linked Data

• ClinVar Variation Id: 1171992
• ClinVar RCV Id: RCV001525541 ; RCV003771603
• dbSNP Id: rs1469321541
• gnomAD v2: 14-23894964-T-C
• gnomAD v4: 14-23425755-T-C
• MyVariant Identifiers: chr14:g.23894964T>C (hg19) ; chr14:g.23425755T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23425755T>C , CM000676.2:g.23425755T>C	GRCh38
NC_000014.8:g.23894964T>C , CM000676.1:g.23894964T>C	GRCh37
NC_000014.7:g.22964804T>C	NCBI36
NG_007884.1:g.14907A>G , LRG_384:g.14907A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2226A>G MANE Select	ENSP00000347507.3:p.Ala742=
ENST00000355349.3:c.2226A>G	ENSP00000347507.3:p.Ala742=
NM_000257.3:c.2226A>G	NP_000248.2:p.Ala742=
XR_245686.3:n.2332A>G
XM_017021340.1:c.2226A>G	XP_016876829.1:p.Ala742=
NM_000257.4:c.2226A>G MANE Select	NP_000248.2:p.Ala742=