Canonical Allele Identifier: CA16609633

Gene: MYH7

Linked Data

• ClinVar Variation Id: 417718
• ClinVar RCV Id: RCV000477668 ; RCV001197233 ; RCV002466513 ; RCV004023097
• dbSNP Id: rs1060505018
• gnomAD v4: 14-23424817-C-A
• COSMIC: COSM381925
• MyVariant Identifiers: chr14:g.23894026C>A (hg19) ; chr14:g.23424817C>A (hg38)
• PubMed: PMID:28699631

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23424817C>A , CM000676.2:g.23424817C>A	GRCh38
NC_000014.8:g.23894026C>A , CM000676.1:g.23894026C>A	GRCh37
NC_000014.7:g.22963866C>A	NCBI36
NG_007884.1:g.15845G>T , LRG_384:g.15845G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2631G>T MANE Select	ENSP00000347507.3:p.Met877Ile
ENST00000355349.3:c.2631G>T	ENSP00000347507.3:p.Met877Ile
NM_000257.3:c.2631G>T	NP_000248.2:p.Met877Ile
XR_245686.3:n.2737G>T
XM_017021340.1:c.2631G>T	XP_016876829.1:p.Met877Ile
NM_000257.4:c.2631G>T MANE Select	NP_000248.2:p.Met877Ile