Canonical Allele Identifier: CA8388621

Gene: MYH4 MYHAS

Linked Data

• ClinVar Variation Id: 3158054
• ClinVar RCV Id: RCV004452444
• dbSNP Id: rs200732393
• ExAC: 17:10348336 G / A
• gnomAD v2: 17-10348336-G-A
• gnomAD v3: 17-10445019-G-A
• gnomAD v4: 17-10445019-G-A
• MyVariant Identifiers: chr17:g.10348336G>A (hg19) ; chr17:g.10445019G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.10445019G>A , CM000679.2:g.10445019G>A	GRCh38
NC_000017.10:g.10348336G>A , CM000679.1:g.10348336G>A	GRCh37
NC_000017.9:g.10289061G>A	NCBI36
NG_052846.1:g.29541C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000255381.2:c.5423C>T (MYH4) MANE Select	ENSP00000255381.2:p.Ala1808Val
NM_017533.2:c.5423C>T (MYH4) MANE Select	NP_060003.2:p.Ala1808Val
NR_125367.1:n.167+38781G>A (MYHAS)
XM_017024676.1:c.5423C>T (MYH4)	XP_016880165.1:p.Ala1808Val