Canonical Allele Identifier: CA413127006

Gene: SHROOM4

Linked Data

• MyVariant Identifiers: chrX:g.50378648C>G (hg19) ; chrX:g.50635648C>G (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000376020.9:c.425G>C MANE Select	ENSP00000365188.2:p.Cys142Ser
ENST00000376020.8:c.425G>C	ENSP00000365188.2:p.Cys142Ser
ENST00000289292.11:c.425G>C	ENSP00000289292.7:p.Cys142Ser
ENST00000376020.6:c.425G>C	ENSP00000365188.2:p.Cys142Ser
ENST00000460112.3:c.77G>C	ENSP00000421450.1:p.Cys26Ser
NM_020717.3:c.425G>C	NP_065768.2:p.Cys142Ser
NR_027121.1:n.451G>C
XM_006724590.2:c.77G>C	XP_006724653.1:p.Cys26Ser
XM_006724591.2:c.-50G>C	XP_006724654.1:n.-50G>C
XM_011530800.1:c.290G>C	XP_011529102.1:p.Cys97Ser
XM_011530801.1:c.425G>C	XP_011529103.1:p.Cys142Ser
XR_938367.1:n.543G>C
XR_938368.1:n.543G>C
XM_017029682.2:c.425G>C	XP_016885171.1:p.Cys142Ser
XM_017029683.1:c.290G>C	XP_016885172.1:p.Cys97Ser
XM_017029684.1:c.77G>C	XP_016885173.1:p.Cys26Ser
XM_017029685.2:c.425G>C	XP_016885174.1:p.Cys142Ser
XM_017029686.1:c.-50G>C	XP_016885175.1:n.-50G>C
XM_017029687.2:c.425G>C	XP_016885176.1:p.Cys142Ser
XR_001755716.2:n.556G>C
XR_001755717.2:n.556G>C
XR_001755718.2:n.556G>C
NM_020717.5:c.425G>C MANE Select	NP_065768.2:p.Cys142Ser
NR_027121.3:n.601G>C
NR_172068.1:n.466G>C
NR_172069.1:n.521G>C
NR_172070.1:n.386G>C