Canonical Allele Identifier: CA8262456
Gene: GEMIN4 HGNC NCBI

Linked Data

ClinVar Variation Id: 1185307
ClinVar RCV Id: RCV001544042
dbSNP Id: rs1062923
gnomAD v2: 17-649067-A-G
gnomAD v3: 17-745827-A-G
gnomAD v4: 17-745827-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.745827A>G , CM000679.2:g.745827A>G GRCh38
NC_000017.10:g.649067A>G , CM000679.1:g.649067A>G GRCh37
NC_000017.9:g.595817A>G NCBI36
NG_046938.1:g.12046T>C

Transcript Alleles

HGVS Amino-acid change
ENST00000319004.6:c.2216T>C MANE Select ENSP00000321706.5:p.Ile739Thr
ENST00000319004.5:c.2216T>C ENSP00000321706.5:p.Ile739Thr
ENST00000576778.1:c.2183T>C ENSP00000459565.1:p.Ile728Thr
NM_015721.2:c.2216T>C NP_056536.2:p.Ile739Thr
XM_005256667.3:c.2228T>C XP_005256724.1:p.Ile743Thr
XM_005256668.3:c.2228T>C XP_005256725.1:p.Ile743Thr
XM_005256670.3:c.2183T>C XP_005256727.1:p.Ile728Thr
XM_011523910.1:c.2228T>C XP_011522212.1:p.Ile743Thr
XM_011523911.1:c.2228T>C XP_011522213.1:p.Ile743Thr
XM_011523912.1:c.2183T>C XP_011522214.1:p.Ile728Thr
XM_011523913.1:c.2183T>C XP_011522215.1:p.Ile728Thr
XM_005256667.4:c.2228T>C XP_005256724.1:p.Ile743Thr
XM_005256670.5:c.2183T>C XP_005256727.1:p.Ile728Thr
XM_011523910.2:c.2228T>C XP_011522212.1:p.Ile743Thr
XM_011523911.2:c.2228T>C XP_011522213.1:p.Ile743Thr
XM_011523912.2:c.2183T>C XP_011522214.1:p.Ile728Thr
XM_011523913.2:c.2183T>C XP_011522215.1:p.Ile728Thr
XM_017024709.1:c.2228T>C XP_016880198.1:p.Ile743Thr
NM_015721.3:c.2216T>C MANE Select NP_056536.2:p.Ile739Thr