Canonical Allele Identifier: CA012656

Gene: MYH7

Linked Data

• ClinVar Variation Id: 164324
• ClinVar RCV Id: RCV000225738 ; RCV000201448 ; RCV000415053 ; RCV000457606 ; RCV001524491 ; RCV001198295 ; RCV002453490 ; RCV002505152 ; RCV003333032 ; RCV003333030 ; RCV003448270 ; RCV003333029 ; RCV003333031
• dbSNP Id: rs2754158
• gnomAD v2: 14-23894085-G-A
• gnomAD v3: 14-23424876-G-A
• gnomAD v4: 14-23424876-G-A
• MyVariant Identifiers: chr14:g.23894085G>A (hg19) ; chr14:g.23424876G>A (hg38)
• PubMed: PMID:15358028 ; PMID:16938236 ; PMID:19149795 ; PMID:20975235 ; PMID:22958901 ; PMID:24093860 ; PMID:24111713 ; PMID:24793961 ; PMID:25086479 ; PMID:25611685 ; PMID:25937619 ; PMID:26187847 ; PMID:27247418 ; PMID:27532257 ; PMID:28498465

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23424876G>A , CM000676.2:g.23424876G>A	GRCh38
NC_000014.8:g.23894085G>A , CM000676.1:g.23894085G>A	GRCh37
NC_000014.7:g.22963925G>A	NCBI36
NG_007884.1:g.15786C>T , LRG_384:g.15786C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.2572C>T MANE Select	ENSP00000347507.3:p.Arg858Cys
ENST00000355349.3:c.2572C>T	ENSP00000347507.3:p.Arg858Cys
NM_000257.3:c.2572C>T	NP_000248.2:p.Arg858Cys
XR_245686.3:n.2678C>T
XM_017021340.1:c.2572C>T	XP_016876829.1:p.Arg858Cys
NM_000257.4:c.2572C>T MANE Select	NP_000248.2:p.Arg858Cys