Canonical Allele Identifier: CA015036

Gene: MYH7 MHRT

Linked Data

• ClinVar Variation Id: 180439
• ClinVar RCV Id: RCV000157364 ; RCV000158660 ; RCV000252808 ; RCV001727608 ; RCV001850186
• dbSNP Id: rs121913647
• ExAC: 14:23886382 C / T
• gnomAD v2: 14-23886382-C-T
• gnomAD v4: 14-23417173-C-T
• COSMIC: COSM5734071
• MyVariant Identifiers: chr14:g.23886382C>T (hg19) ; chr14:g.23417173C>T (hg38)
• PubMed: PMID:15322983 ; PMID:15556047 ; PMID:19864899 ; PMID:27247418
• ERepo: CA015036/MONDO:0004994/002

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23417173C>T , CM000676.2:g.23417173C>T	GRCh38
NC_000014.8:g.23886382C>T , CM000676.1:g.23886382C>T	GRCh37
NC_000014.7:g.22956222C>T	NCBI36
NG_007884.1:g.23489G>A , LRG_384:g.23489G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000355349.4:c.4499G>A (MYH7) MANE Select	ENSP00000347507.3:p.Arg1500Gln
ENST00000355349.3:c.4499G>A (MYH7)	ENSP00000347507.3:p.Arg1500Gln
NM_000257.3:c.4499G>A (MYH7)	NP_000248.2:p.Arg1500Gln
NR_126491.1:n.652-39C>T (MHRT)
XM_017021340.1:c.4499G>A (MYH7)	XP_016876829.1:p.Arg1500Gln
NM_000257.4:c.4499G>A (MYH7) MANE Select	NP_000248.2:p.Arg1500Gln