Canonical Allele Identifier: CA337790672

Gene: HES4

Linked Data

• ClinVar Variation Id: 2529794
• ClinVar RCV Id: RCV004299194
• gnomAD v4: 1-999126-G-A
• MyVariant Identifiers: chr1:g.934506G>A (hg19) ; chr1:g.999126G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000001.11:g.999126G>A , CM000663.2:g.999126G>A	GRCh38
NC_000001.10:g.934506G>A , CM000663.1:g.934506G>A	GRCh37
NC_000001.9:g.924369G>A	NCBI36
NG_033033.2:g.2989G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000304952.11:c.599C>T MANE Select	ENSP00000304595.7:p.Ala200Val
ENST00000304952.10:c.599C>T	ENSP00000304595.6:p.Ala200Val
ENST00000428771.6:c.677C>T	ENSP00000393198.2:p.Ala226Val
ENST00000481869.1:n.878C>T
ENST00000484667.2:c.503C>T	ENSP00000425085.1:p.Ala168Val
NM_001142467.1:c.677C>T	NP_001135939.1:p.Ala226Val
NM_021170.3:c.599C>T	NP_066993.1:p.Ala200Val
XM_005244771.3:c.503C>T	XP_005244828.1:p.Ala168Val
XM_005244771.4:c.503C>T	XP_005244828.1:p.Ala168Val
NM_001142467.2:c.677C>T	NP_001135939.1:p.Ala226Val
NM_021170.4:c.599C>T MANE Select	NP_066993.1:p.Ala200Val