Canonical Allele Identifier: CA015727

Gene: MYH7 MHRT

Linked Data

• ClinVar Variation Id: 36642
• ClinVar RCV Id: RCV000030320 ; RCV000223711 ; RCV000199234 ; RCV000586653 ; RCV001170487 ; RCV000995812 ; RCV001251032 ; RCV002504832
• dbSNP Id: rs193922390
• ExAC: 14:23884860 C / T
• gnomAD v2: 14-23884860-C-T
• gnomAD v3: 14-23415651-C-T
• gnomAD v4: 14-23415651-C-T
• MyVariant Identifiers: chr14:g.23884860C>T (hg19) ; chr14:g.23415651C>T (hg38)
• ERepo: CA015727/MONDO:0005045/002
• PubMed: PMID:15483641 ; PMID:18403758 ; PMID:20298698 ; PMID:21511876 ; PMID:23054336 ; PMID:23074333 ; PMID:23785128 ; PMID:24510615 ; PMID:24835277 ; PMID:25351510 ; PMID:27247418 ; PMID:27532257 ; PMID:27688314 ; PMID:28193612 ; PMID:29300372

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23415651C>T , CM000676.2:g.23415651C>T	GRCh38
NC_000014.8:g.23884860C>T , CM000676.1:g.23884860C>T	GRCh37
NC_000014.7:g.22954700C>T	NCBI36
NG_007884.1:g.25011G>A , LRG_384:g.25011G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.5135G>A (MYH7) MANE Select	ENSP00000347507.3:p.Arg1712Gln
ENST00000355349.3:c.5135G>A (MYH7)	ENSP00000347507.3:p.Arg1712Gln
NM_000257.3:c.5135G>A (MYH7)	NP_000248.2:p.Arg1712Gln
NR_126491.1:n.83C>T (MHRT)
XM_017021340.1:c.5135G>A (MYH7)	XP_016876829.1:p.Arg1712Gln
NM_000257.4:c.5135G>A (MYH7) MANE Select	NP_000248.2:p.Arg1712Gln