Canonical Allele Identifier: CA121178
Gene: SHROOM4 HGNC NCBI

Linked Data

ClinVar Variation Id: 10795
ClinVar RCV Id: RCV000011542
dbSNP Id: rs121434620
gnomAD v2: X-50350876-G-A
gnomAD v4: X-50607876-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000023.11:g.50607876G>A , CM000685.2:g.50607876G>A GRCh38
NC_000023.10:g.50350876G>A , CM000685.1:g.50350876G>A GRCh37
NC_000023.9:g.50367616G>A NCBI36
NG_011882.1:g.211169C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000376020.9:c.3266C>T MANE Select ENSP00000365188.2:p.Ser1089Leu
ENST00000376020.8:c.3266C>T ENSP00000365188.2:p.Ser1089Leu
ENST00000289292.11:c.3266C>T ENSP00000289292.7:p.Ser1089Leu
ENST00000376020.6:c.3266C>T ENSP00000365188.2:p.Ser1089Leu
ENST00000460112.3:c.2918C>T ENSP00000421450.1:p.Ser973Leu
NM_020717.3:c.3266C>T NP_065768.2:p.Ser1089Leu
NR_027121.1:n.3292C>T
XM_006724590.2:c.2918C>T XP_006724653.1:p.Ser973Leu
XM_006724591.2:c.2792C>T XP_006724654.1:p.Ser931Leu
XM_011530800.1:c.3131C>T XP_011529102.1:p.Ser1044Leu
XM_011530801.1:c.3266C>T XP_011529103.1:p.Ser1089Leu
XR_938367.1:n.3384C>T
XR_938368.1:n.3384C>T
XM_017029682.2:c.3380C>T XP_016885171.1:p.Ser1127Leu
XM_017029683.1:c.3245C>T XP_016885172.1:p.Ser1082Leu
XM_017029684.1:c.3032C>T XP_016885173.1:p.Ser1011Leu
XM_017029685.2:c.3380C>T XP_016885174.1:p.Ser1127Leu
XM_017029686.1:c.2906C>T XP_016885175.1:p.Ser969Leu
XR_001755716.2:n.3511C>T
XR_001755717.2:n.3511C>T
XR_001755718.2:n.3511C>T
NM_020717.5:c.3266C>T MANE Select NP_065768.2:p.Ser1089Leu
NR_027121.3:n.3442C>T
NR_172068.1:n.3307C>T
NR_172069.1:n.3362C>T
NR_172070.1:n.3227C>T