Canonical Allele Identifier: CA413126997

Gene: SHROOM4

Linked Data

• MyVariant Identifiers: chrX:g.50378647A>C (hg19) ; chrX:g.50635647A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635647A>C , CM000685.2:g.50635647A>C	GRCh38
NC_000023.10:g.50378647A>C , CM000685.1:g.50378647A>C	GRCh37
NC_000023.9:g.50395387A>C	NCBI36
NG_011882.1:g.183398T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.426T>G MANE Select	ENSP00000365188.2:p.Cys142Trp
ENST00000376020.8:c.426T>G	ENSP00000365188.2:p.Cys142Trp
ENST00000289292.11:c.426T>G	ENSP00000289292.7:p.Cys142Trp
ENST00000376020.6:c.426T>G	ENSP00000365188.2:p.Cys142Trp
ENST00000460112.3:c.78T>G	ENSP00000421450.1:p.Cys26Trp
NM_020717.3:c.426T>G	NP_065768.2:p.Cys142Trp
NR_027121.1:n.452T>G
XM_006724590.2:c.78T>G	XP_006724653.1:p.Cys26Trp
XM_006724591.2:c.-49T>G	XP_006724654.1:n.-49T>G
XM_011530800.1:c.291T>G	XP_011529102.1:p.Cys97Trp
XM_011530801.1:c.426T>G	XP_011529103.1:p.Cys142Trp
XR_938367.1:n.544T>G
XR_938368.1:n.544T>G
XM_017029682.2:c.426T>G	XP_016885171.1:p.Cys142Trp
XM_017029683.1:c.291T>G	XP_016885172.1:p.Cys97Trp
XM_017029684.1:c.78T>G	XP_016885173.1:p.Cys26Trp
XM_017029685.2:c.426T>G	XP_016885174.1:p.Cys142Trp
XM_017029686.1:c.-49T>G	XP_016885175.1:n.-49T>G
XM_017029687.2:c.426T>G	XP_016885176.1:p.Cys142Trp
XR_001755716.2:n.557T>G
XR_001755717.2:n.557T>G
XR_001755718.2:n.557T>G
NM_020717.5:c.426T>G MANE Select	NP_065768.2:p.Cys142Trp
NR_027121.3:n.602T>G
NR_172068.1:n.467T>G
NR_172069.1:n.522T>G
NR_172070.1:n.387T>G