Canonical Allele Identifier: CA389034537

Gene: MYH7

Linked Data

• ClinVar Variation Id: 518640
• ClinVar RCV Id: RCV000620963 ; RCV001327837 ; RCV003150309 ; RCV002510931
• dbSNP Id: rs1343372308
• gnomAD v3: 14-23413792-C-G
• gnomAD v4: 14-23413792-C-G
• MyVariant Identifiers: chr14:g.23883001C>G (hg19) ; chr14:g.23413792C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23413792C>G , CM000676.2:g.23413792C>G	GRCh38
NC_000014.8:g.23883001C>G , CM000676.1:g.23883001C>G	GRCh37
NC_000014.7:g.22952841C>G	NCBI36
NG_007884.1:g.26870G>C , LRG_384:g.26870G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5757G>C MANE Select	ENSP00000347507.3:p.Lys1919Asn
ENST00000355349.3:c.5757G>C	ENSP00000347507.3:p.Lys1919Asn
NM_000257.3:c.5757G>C	NP_000248.2:p.Lys1919Asn
XM_017021340.1:c.5757G>C	XP_016876829.1:p.Lys1919Asn
NM_000257.4:c.5757G>C MANE Select	NP_000248.2:p.Lys1919Asn