Canonical Allele Identifier: CA036593

Gene: MYH7

Linked Data

• ClinVar Variation Id: 1284717
• ClinVar RCV Id: RCV001699870 ; RCV001882775 ; RCV003150454
• dbSNP Id: rs772216320
• ExAC: 14:23890229 C / T
• gnomAD v2: 14-23890229-C-T
• gnomAD v3: 14-23421020-C-T
• gnomAD v4: 14-23421020-C-T
• MyVariant Identifiers: chr14:g.23890229C>T (hg19) ; chr14:g.23421020C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000014.9:g.23421020C>T , CM000676.2:g.23421020C>T	GRCh38
NC_000014.8:g.23890229C>T , CM000676.1:g.23890229C>T	GRCh37
NC_000014.7:g.22960069C>T	NCBI36
NG_007884.1:g.19642G>A , LRG_384:g.19642G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000355349.4:c.3274G>A MANE Select	ENSP00000347507.3:p.Ala1092Thr
ENST00000355349.3:c.3274G>A	ENSP00000347507.3:p.Ala1092Thr
NM_000257.3:c.3274G>A	NP_000248.2:p.Ala1092Thr
XR_245686.3:n.3382G>A
XM_017021340.1:c.3274G>A	XP_016876829.1:p.Ala1092Thr
NM_000257.4:c.3274G>A MANE Select	NP_000248.2:p.Ala1092Thr