Canonical Allele Identifier: CA10416347

Gene: SHROOM4

Linked Data

• dbSNP Id: rs782651628
• ExAC: X:50378546 G / C
• gnomAD v2: X-50378546-G-C
• gnomAD v3: X-50635546-G-C
• gnomAD v4: X-50635546-G-C
• MyVariant Identifiers: chrX:g.50378546G>C (hg19) ; chrX:g.50635546G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50635546G>C , CM000685.2:g.50635546G>C	GRCh38
NC_000023.10:g.50378546G>C , CM000685.1:g.50378546G>C	GRCh37
NC_000023.9:g.50395286G>C	NCBI36
NG_011882.1:g.183499C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000376020.9:c.527C>G MANE Select	ENSP00000365188.2:p.Pro176Arg
ENST00000376020.8:c.527C>G	ENSP00000365188.2:p.Pro176Arg
ENST00000289292.11:c.527C>G	ENSP00000289292.7:p.Pro176Arg
ENST00000376020.6:c.527C>G	ENSP00000365188.2:p.Pro176Arg
ENST00000460112.3:c.179C>G	ENSP00000421450.1:p.Pro60Arg
NM_020717.3:c.527C>G	NP_065768.2:p.Pro176Arg
NR_027121.1:n.553C>G
XM_006724590.2:c.179C>G	XP_006724653.1:p.Pro60Arg
XM_006724591.2:c.53C>G	XP_006724654.1:p.Pro18Arg
XM_011530800.1:c.392C>G	XP_011529102.1:p.Pro131Arg
XM_011530801.1:c.527C>G	XP_011529103.1:p.Pro176Arg
XR_938367.1:n.645C>G
XR_938368.1:n.645C>G
XM_017029682.2:c.527C>G	XP_016885171.1:p.Pro176Arg
XM_017029683.1:c.392C>G	XP_016885172.1:p.Pro131Arg
XM_017029684.1:c.179C>G	XP_016885173.1:p.Pro60Arg
XM_017029685.2:c.527C>G	XP_016885174.1:p.Pro176Arg
XM_017029686.1:c.53C>G	XP_016885175.1:p.Pro18Arg
XM_017029687.2:c.527C>G	XP_016885176.1:p.Pro176Arg
XR_001755716.2:n.658C>G
XR_001755717.2:n.658C>G
XR_001755718.2:n.658C>G
NM_020717.5:c.527C>G MANE Select	NP_065768.2:p.Pro176Arg
NR_027121.3:n.703C>G
NR_172068.1:n.568C>G
NR_172069.1:n.623C>G
NR_172070.1:n.488C>G