Canonical Allele Identifier: CA015196

Gene: MYH7 MHRT

Linked Data

• ClinVar Variation Id: 181391
• ClinVar RCV Id: RCV000158867 ; RCV001207738
• dbSNP Id: rs730880912
• gnomAD v2: 14-23885517-G-A
• gnomAD v3: 14-23416308-G-A
• gnomAD v4: 14-23416308-G-A
• MyVariant Identifiers: chr14:g.23885517G>A (hg19) ; chr14:g.23416308G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23416308G>A , CM000676.2:g.23416308G>A	GRCh38
NC_000014.8:g.23885517G>A , CM000676.1:g.23885517G>A	GRCh37
NC_000014.7:g.22955357G>A	NCBI36
NG_007884.1:g.24354C>T , LRG_384:g.24354C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.4649C>T (MYH7) MANE Select	ENSP00000347507.3:p.Ser1550Phe
ENST00000355349.3:c.4649C>T (MYH7)	ENSP00000347507.3:p.Ser1550Phe
NM_000257.3:c.4649C>T (MYH7)	NP_000248.2:p.Ser1550Phe
NR_126491.1:n.558+11G>A (MHRT)
XM_017021340.1:c.4649C>T (MYH7)	XP_016876829.1:p.Ser1550Phe
NM_000257.4:c.4649C>T (MYH7) MANE Select	NP_000248.2:p.Ser1550Phe