Canonical Allele Identifier: CA10416350

Gene: SHROOM4

Linked Data

• ClinVar Variation Id: 590244
• ClinVar RCV Id: RCV000721070
• dbSNP Id: rs142052951
• ExAC: X:50378564 T / C
• gnomAD v2: X-50378564-T-C
• gnomAD v3: X-50635564-T-C
• gnomAD v4: X-50635564-T-C
• MyVariant Identifiers: chrX:g.50378564T>C (hg19) ; chrX:g.50635564T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635564T>C , CM000685.2:g.50635564T>C	GRCh38
NC_000023.10:g.50378564T>C , CM000685.1:g.50378564T>C	GRCh37
NC_000023.9:g.50395304T>C	NCBI36
NG_011882.1:g.183481A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.509A>G MANE Select	ENSP00000365188.2:p.Tyr170Cys
ENST00000376020.8:c.509A>G	ENSP00000365188.2:p.Tyr170Cys
ENST00000289292.11:c.509A>G	ENSP00000289292.7:p.Tyr170Cys
ENST00000376020.6:c.509A>G	ENSP00000365188.2:p.Tyr170Cys
ENST00000460112.3:c.161A>G	ENSP00000421450.1:p.Tyr54Cys
NM_020717.3:c.509A>G	NP_065768.2:p.Tyr170Cys
NR_027121.1:n.535A>G
XM_006724590.2:c.161A>G	XP_006724653.1:p.Tyr54Cys
XM_006724591.2:c.35A>G	XP_006724654.1:p.Tyr12Cys
XM_011530800.1:c.374A>G	XP_011529102.1:p.Tyr125Cys
XM_011530801.1:c.509A>G	XP_011529103.1:p.Tyr170Cys
XR_938367.1:n.627A>G
XR_938368.1:n.627A>G
XM_017029682.2:c.509A>G	XP_016885171.1:p.Tyr170Cys
XM_017029683.1:c.374A>G	XP_016885172.1:p.Tyr125Cys
XM_017029684.1:c.161A>G	XP_016885173.1:p.Tyr54Cys
XM_017029685.2:c.509A>G	XP_016885174.1:p.Tyr170Cys
XM_017029686.1:c.35A>G	XP_016885175.1:p.Tyr12Cys
XM_017029687.2:c.509A>G	XP_016885176.1:p.Tyr170Cys
XR_001755716.2:n.640A>G
XR_001755717.2:n.640A>G
XR_001755718.2:n.640A>G
NM_020717.5:c.509A>G MANE Select	NP_065768.2:p.Tyr170Cys
NR_027121.3:n.685A>G
NR_172068.1:n.550A>G
NR_172069.1:n.605A>G
NR_172070.1:n.470A>G