Canonical Allele Identifier: CA15311666
Gene: SHROOM3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1263431
ClinVar RCV Id: RCV001672248
dbSNP Id: rs17319721
gnomAD v2: 4-77368847-G-A
gnomAD v3: 4-76447694-G-A
gnomAD v4: 4-76447694-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.76447694G>A , CM000666.2:g.76447694G>A GRCh38
NC_000004.11:g.77368847G>A , CM000666.1:g.77368847G>A GRCh37
NC_000004.10:g.77587871G>A NCBI36
NG_028077.1:g.17595G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000296043.7:c.168+11474G>A MANE Select ENSP00000296043.6:n.168+11474G>A
ENST00000296043.6:c.168+11474G>A ENSP00000296043.6:n.168+11474G>A
ENST00000466541.1:n.75+11474G>A
ENST00000497440.5:n.109+11474G>A
NM_020859.3:c.168+11474G>A NP_065910.3:n.168+11474G>A
XM_005263162.3:c.168+11474G>A XP_005263219.1:n.168+11474G>A
XM_011532158.1:c.168+11474G>A XP_011530460.1:n.168+11474G>A
XM_011532159.1:c.168+11474G>A XP_011530461.1:n.168+11474G>A
XM_011532158.3:c.168+11474G>A XP_011530460.1:n.168+11474G>A
NM_020859.4:c.168+11474G>A MANE Select NP_065910.3:n.168+11474G>A