Canonical Allele Identifier: CA207326

Gene: SHROOM4

Linked Data

• ClinVar Variation Id: 212181
• ClinVar RCV Id: RCV000193677 ; RCV000514408 ; RCV003927807
• dbSNP Id: rs137923286
• ExAC: X:50341412 C / T
• gnomAD v2: X-50341412-C-T
• gnomAD v3: X-50598412-C-T
• gnomAD v4: X-50598412-C-T
• MyVariant Identifiers: chrX:g.50341412C>T (hg19) ; chrX:g.50598412C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50598412C>T , CM000685.2:g.50598412C>T	GRCh38
NC_000023.10:g.50341412C>T , CM000685.1:g.50341412C>T	GRCh37
NC_000023.9:g.50358152C>T	NCBI36
NG_011882.1:g.220633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.4066G>A MANE Select	ENSP00000365188.2:p.Val1356Ile
ENST00000376020.8:c.4066G>A	ENSP00000365188.2:p.Val1356Ile
ENST00000289292.11:c.4066G>A	ENSP00000289292.7:p.Val1356Ile
ENST00000376020.6:c.4066G>A	ENSP00000365188.2:p.Val1356Ile
ENST00000460112.3:c.3718G>A	ENSP00000421450.1:p.Val1240Ile
NM_020717.3:c.4066G>A	NP_065768.2:p.Val1356Ile
NR_027121.1:n.4092G>A
XM_006724590.2:c.3718G>A	XP_006724653.1:p.Val1240Ile
XM_006724591.2:c.3592G>A	XP_006724654.1:p.Val1198Ile
XM_011530800.1:c.3931G>A	XP_011529102.1:p.Val1311Ile
XM_011530801.1:c.4067G>A	XP_011529103.1:p.Arg1356His
XR_938367.1:n.4184G>A
XR_938368.1:n.4184G>A
XM_017029682.2:c.4180G>A	XP_016885171.1:p.Val1394Ile
XM_017029683.1:c.4045G>A	XP_016885172.1:p.Val1349Ile
XM_017029684.1:c.3832G>A	XP_016885173.1:p.Val1278Ile
XM_017029685.2:c.4181G>A	XP_016885174.1:p.Arg1394His
XM_017029686.1:c.3706G>A	XP_016885175.1:p.Val1236Ile
XR_001755716.2:n.4311G>A
XR_001755717.2:n.4311G>A
XR_001755718.2:n.4311G>A
NM_020717.5:c.4066G>A MANE Select	NP_065768.2:p.Val1356Ile
NR_027121.3:n.4242G>A
NR_172068.1:n.4107G>A
NR_172069.1:n.4162G>A
NR_172070.1:n.4027G>A