Canonical Allele Identifier: CA010360

Gene: MYH7

Linked Data

• ClinVar Variation Id: 14102
• ClinVar RCV Id: RCV000158787 ; RCV000015158 ; RCV001170740 ; RCV000456661 ; RCV000515361 ; RCV000621657
• dbSNP Id: rs3218714
• gnomAD v4: 14-23429279-G-A
• COSMIC: COSM954779
• MyVariant Identifiers: chr14:g.23898488G>A (hg19) ; chr14:g.23429279G>A (hg38)
• PubMed: PMID:7662452 ; PMID:7848420 ; PMID:8254035 ; PMID:8268932 ; PMID:10521296 ; PMID:10882745 ; PMID:15010274 ; PMID:15856146 ; PMID:18029407 ; PMID:21310275 ; PMID:25351510 ; PMID:27247418 ; PMID:27532257 ; PMID:28615295 ; PMID:29300372
• ERepo: CA010360/MONDO:0005045/002

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23429279G>A , CM000676.2:g.23429279G>A	GRCh38
NC_000014.8:g.23898488G>A , CM000676.1:g.23898488G>A	GRCh37
NC_000014.7:g.22968328G>A	NCBI36
NG_007884.1:g.11383C>T , LRG_384:g.11383C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.1207C>T MANE Select	ENSP00000347507.3:p.Arg403Trp
ENST00000355349.3:c.1207C>T	ENSP00000347507.3:p.Arg403Trp
NM_000257.3:c.1207C>T	NP_000248.2:p.Arg403Trp
XR_245686.3:n.1313C>T
XM_017021340.1:c.1207C>T	XP_016876829.1:p.Arg403Trp
NM_000257.4:c.1207C>T MANE Select	NP_000248.2:p.Arg403Trp