Canonical Allele Identifier: CA389037680

Gene: MYH7 MHRT

Linked Data

• ClinVar Variation Id: 842087
• ClinVar RCV Id: RCV001044438 ; RCV001525767 ; RCV002339223
• dbSNP Id: rs797044600
• gnomAD v2: 14-23885403-C-T
• gnomAD v4: 14-23416194-C-T
• COSMIC: COSM954749
• MyVariant Identifiers: chr14:g.23885403C>T (hg19) ; chr14:g.23416194C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416194C>T , CM000676.2:g.23416194C>T	GRCh38
NC_000014.8:g.23885403C>T , CM000676.1:g.23885403C>T	GRCh37
NC_000014.7:g.22955243C>T	NCBI36
NG_007884.1:g.24468G>A , LRG_384:g.24468G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4763G>A (MYH7) MANE Select	ENSP00000347507.3:p.Arg1588His
ENST00000355349.3:c.4763G>A (MYH7)	ENSP00000347507.3:p.Arg1588His
NM_000257.3:c.4763G>A (MYH7)	NP_000248.2:p.Arg1588His
NR_126491.1:n.455C>T (MHRT)
XM_017021340.1:c.4763G>A (MYH7)	XP_016876829.1:p.Arg1588His
NM_000257.4:c.4763G>A (MYH7) MANE Select	NP_000248.2:p.Arg1588His