Canonical Allele Identifier: CA149090

Gene: SHROOM4

Linked Data

• ClinVar Variation Id: 95972
• ClinVar RCV Id: RCV000082026 ; RCV003974985
• dbSNP Id: rs6614552
• ExAC: X:50350728 T / C
• gnomAD v2: X-50350728-T-C
• gnomAD v3: X-50607728-T-C
• gnomAD v4: X-50607728-T-C
• MyVariant Identifiers: chrX:g.50350728T>C (hg19) ; chrX:g.50350728_50350734delinsCTCCTCC (hg19) ; chrX:g.50607728T>C (hg38) ; chrX:g.50607728_50607734delinsCTCCTCC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50607728T>C , CM000685.2:g.50607728T>C	GRCh38
NC_000023.10:g.50350728T>C , CM000685.1:g.50350728T>C	GRCh37
NC_000023.9:g.50367468T>C	NCBI36
NG_011882.1:g.211317A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.3414A>G MANE Select	ENSP00000365188.2:p.Glu1138=
ENST00000376020.8:c.3414A>G	ENSP00000365188.2:p.Glu1138=
ENST00000289292.11:c.3414A>G	ENSP00000289292.7:p.Glu1138=
ENST00000376020.6:c.3414A>G	ENSP00000365188.2:p.Glu1138=
ENST00000460112.3:c.3066A>G	ENSP00000421450.1:p.Glu1022=
NM_020717.3:c.3414A>G	NP_065768.2:p.Glu1138=
NR_027121.1:n.3440A>G
XM_006724590.2:c.3066A>G	XP_006724653.1:p.Glu1022=
XM_006724591.2:c.2940A>G	XP_006724654.1:p.Glu980=
XM_011530800.1:c.3279A>G	XP_011529102.1:p.Glu1093=
XM_011530801.1:c.3414A>G	XP_011529103.1:p.Glu1138=
XR_938367.1:n.3532A>G
XR_938368.1:n.3532A>G
XM_017029682.2:c.3528A>G	XP_016885171.1:p.Glu1176=
XM_017029683.1:c.3393A>G	XP_016885172.1:p.Glu1131=
XM_017029684.1:c.3180A>G	XP_016885173.1:p.Glu1060=
XM_017029685.2:c.3528A>G	XP_016885174.1:p.Glu1176=
XM_017029686.1:c.3054A>G	XP_016885175.1:p.Glu1018=
XR_001755716.2:n.3659A>G
XR_001755717.2:n.3659A>G
XR_001755718.2:n.3659A>G
NM_020717.5:c.3414A>G MANE Select	NP_065768.2:p.Glu1138=
NR_027121.3:n.3590A>G
NR_172068.1:n.3455A>G
NR_172069.1:n.3510A>G
NR_172070.1:n.3375A>G