Canonical Allele Identifier: CA013389

Gene: MYH7

Linked Data

• ClinVar Variation Id: 177851
• ClinVar RCV Id: RCV000154488 ; RCV000628879 ; RCV000989189 ; RCV001183972 ; RCV001560656 ; RCV002321636
• dbSNP Id: rs727504358
• ExAC: 14:23891482 G / A
• gnomAD v2: 14-23891482-G-A
• gnomAD v3: 14-23422273-G-A
• gnomAD v4: 14-23422273-G-A
• MyVariant Identifiers: chr14:g.23891482G>A (hg19) ; chr14:g.23422273G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23422273G>A , CM000676.2:g.23422273G>A	GRCh38
NC_000014.8:g.23891482G>A , CM000676.1:g.23891482G>A	GRCh37
NC_000014.7:g.22961322G>A	NCBI36
NG_007884.1:g.18389C>T , LRG_384:g.18389C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3152C>T MANE Select	ENSP00000347507.3:p.Ala1051Val
ENST00000355349.3:c.3152C>T	ENSP00000347507.3:p.Ala1051Val
NM_000257.3:c.3152C>T	NP_000248.2:p.Ala1051Val
XR_245686.3:n.3258C>T
XM_017021340.1:c.3152C>T	XP_016876829.1:p.Ala1051Val
NM_000257.4:c.3152C>T MANE Select	NP_000248.2:p.Ala1051Val