Canonical Allele Identifier: CA516568626

Gene: SHROOM4

Linked Data

• dbSNP Id: rs1457861213
• gnomAD v2: X-50378551-C-A
• gnomAD v3: X-50635551-C-A
• gnomAD v4: X-50635551-C-A
• MyVariant Identifiers: chrX:g.50378551C>A (hg19) ; chrX:g.50635551C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635551C>A , CM000685.2:g.50635551C>A	GRCh38
NC_000023.10:g.50378551C>A , CM000685.1:g.50378551C>A	GRCh37
NC_000023.9:g.50395291C>A	NCBI36
NG_011882.1:g.183494G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000376020.9:c.522G>T MANE Select	ENSP00000365188.2:p.Leu174=
ENST00000376020.8:c.522G>T	ENSP00000365188.2:p.Leu174=
ENST00000289292.11:c.522G>T	ENSP00000289292.7:p.Leu174=
ENST00000376020.6:c.522G>T	ENSP00000365188.2:p.Leu174=
ENST00000460112.3:c.174G>T	ENSP00000421450.1:p.Leu58=
NM_020717.3:c.522G>T	NP_065768.2:p.Leu174=
NR_027121.1:n.548G>T
XM_006724590.2:c.174G>T	XP_006724653.1:p.Leu58=
XM_006724591.2:c.48G>T	XP_006724654.1:p.Leu16=
XM_011530800.1:c.387G>T	XP_011529102.1:p.Leu129=
XM_011530801.1:c.522G>T	XP_011529103.1:p.Leu174=
XR_938367.1:n.640G>T
XR_938368.1:n.640G>T
XM_017029682.2:c.522G>T	XP_016885171.1:p.Leu174=
XM_017029683.1:c.387G>T	XP_016885172.1:p.Leu129=
XM_017029684.1:c.174G>T	XP_016885173.1:p.Leu58=
XM_017029685.2:c.522G>T	XP_016885174.1:p.Leu174=
XM_017029686.1:c.48G>T	XP_016885175.1:p.Leu16=
XM_017029687.2:c.522G>T	XP_016885176.1:p.Leu174=
XR_001755716.2:n.653G>T
XR_001755717.2:n.653G>T
XR_001755718.2:n.653G>T
NM_020717.5:c.522G>T MANE Select	NP_065768.2:p.Leu174=
NR_027121.3:n.698G>T
NR_172068.1:n.563G>T
NR_172069.1:n.618G>T
NR_172070.1:n.483G>T