Canonical Allele Identifier: CA413118703

Gene: SHROOM4

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.50634214A>G , CM000685.2:g.50634214A>G	GRCh38
NC_000023.10:g.50377214A>G , CM000685.1:g.50377214A>G	GRCh37
NC_000023.9:g.50393954A>G	NCBI36
NG_011882.1:g.184831T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_020717.5:c.1859T>C MANE Select	NP_065768.2:p.Val620Ala
ENST00000376020.9:c.1859T>C MANE Select	ENSP00000365188.2:p.Val620Ala
NM_020717.3:c.1859T>C	NP_065768.2:p.Val620Ala
NR_027121.1:n.1885T>C
NR_027121.3:n.2035T>C
NR_172068.1:n.1900T>C
NR_172069.1:n.1955T>C
NR_172070.1:n.1820T>C
ENST00000289292.11:c.1859T>C	ENSP00000289292.7:p.Val620Ala
ENST00000376020.6:c.1859T>C	ENSP00000365188.2:p.Val620Ala
ENST00000376020.8:c.1859T>C	ENSP00000365188.2:p.Val620Ala
ENST00000460112.3:c.1511T>C	ENSP00000421450.1:p.Val504Ala
XM_006724590.2:c.1511T>C	XP_006724653.1:p.Val504Ala
XM_006724591.2:c.1385T>C	XP_006724654.1:p.Val462Ala
XM_011530800.1:c.1724T>C	XP_011529102.1:p.Val575Ala
XM_011530801.1:c.1859T>C	XP_011529103.1:p.Val620Ala
XM_017029682.2:c.1859T>C	XP_016885171.1:p.Val620Ala
XM_017029683.1:c.1724T>C	XP_016885172.1:p.Val575Ala
XM_017029684.1:c.1511T>C	XP_016885173.1:p.Val504Ala
XM_017029685.2:c.1859T>C	XP_016885174.1:p.Val620Ala
XM_017029686.1:c.1385T>C	XP_016885175.1:p.Val462Ala
XM_017029687.2:c.1859T>C	XP_016885176.1:p.Val620Ala
XR_001755716.2:n.1990T>C
XR_001755717.2:n.1990T>C
XR_001755718.2:n.1990T>C
XR_938367.1:n.1977T>C
XR_938368.1:n.1977T>C