Canonical Allele Identifier: CA15311666
Gene: SHROOM3 HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.76447694G>A
GRCh37 chr4:g.77368847G>A
gnomAD v2:
4:77368847 G / A
gnomAD v3:
4:76447694 G / A
gnomAD v4:
chr4-76447694-G-A
Joint Max Group AF 0.42568865 (NFE)
Genomes Max Group AF 0.42568865 (NFE)
ClinVar Allele:
1252048
ClinVar RCV:
RCV001672248
ClinVar Variation:
1263431
dbSNP:
17319721
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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
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