Canonical Allele Identifier: CA10416359

Gene: SHROOM4

Linked Data

• ClinVar Variation Id: 2468449
• ClinVar RCV Id: RCV004256808
• dbSNP Id: rs782099388
• ExAC: X:50378648 C / T
• gnomAD v2: X-50378648-C-T
• gnomAD v3: X-50635648-C-T
• gnomAD v4: X-50635648-C-T
• MyVariant Identifiers: chrX:g.50378648C>T (hg19) ; chrX:g.50635648C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635648C>T , CM000685.2:g.50635648C>T	GRCh38
NC_000023.10:g.50378648C>T , CM000685.1:g.50378648C>T	GRCh37
NC_000023.9:g.50395388C>T	NCBI36
NG_011882.1:g.183397G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.425G>A MANE Select	ENSP00000365188.2:p.Cys142Tyr
ENST00000376020.8:c.425G>A	ENSP00000365188.2:p.Cys142Tyr
ENST00000289292.11:c.425G>A	ENSP00000289292.7:p.Cys142Tyr
ENST00000376020.6:c.425G>A	ENSP00000365188.2:p.Cys142Tyr
ENST00000460112.3:c.77G>A	ENSP00000421450.1:p.Cys26Tyr
NM_020717.3:c.425G>A	NP_065768.2:p.Cys142Tyr
NR_027121.1:n.451G>A
XM_006724590.2:c.77G>A	XP_006724653.1:p.Cys26Tyr
XM_006724591.2:c.-50G>A	XP_006724654.1:n.-50G>A
XM_011530800.1:c.290G>A	XP_011529102.1:p.Cys97Tyr
XM_011530801.1:c.425G>A	XP_011529103.1:p.Cys142Tyr
XR_938367.1:n.543G>A
XR_938368.1:n.543G>A
XM_017029682.2:c.425G>A	XP_016885171.1:p.Cys142Tyr
XM_017029683.1:c.290G>A	XP_016885172.1:p.Cys97Tyr
XM_017029684.1:c.77G>A	XP_016885173.1:p.Cys26Tyr
XM_017029685.2:c.425G>A	XP_016885174.1:p.Cys142Tyr
XM_017029686.1:c.-50G>A	XP_016885175.1:n.-50G>A
XM_017029687.2:c.425G>A	XP_016885176.1:p.Cys142Tyr
XR_001755716.2:n.556G>A
XR_001755717.2:n.556G>A
XR_001755718.2:n.556G>A
NM_020717.5:c.425G>A MANE Select	NP_065768.2:p.Cys142Tyr
NR_027121.3:n.601G>A
NR_172068.1:n.466G>A
NR_172069.1:n.521G>A
NR_172070.1:n.386G>A