Canonical Allele Identifier: CA15899667
Gene: GEMIN4 HGNC NCBI
COSMIC:
COSN6659931 (not active)
COSN6659932 (not active)
MyVariant.info:
GRCh38 chr17:g.750578G>T
GRCh37 chr17:g.653818G>T
gnomAD v2:
17:653818 G / T
gnomAD v3:
17:750578 G / T
gnomAD v4:
chr17-750578-G-T
Joint Max Group AF 0.22277781 (EAS)
Genomes Max Group AF 0.22277781 (EAS)
dbSNP:
2291778
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.750578G>T , CM000679.2:g.750578G>T GRCh38
NC_000017.10:g.653818G>T , CM000679.1:g.653818G>T GRCh37
NC_000017.9:g.600568G>T NCBI36
NG_046938.1:g.7295C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000319004.6:c.10+1555C>A MANE Select ENSP00000321706.5:n.10+1555C>A
ENST00000319004.5:c.10+1555C>A ENSP00000321706.5:n.10+1555C>A
ENST00000437269.1:c.10+1555C>A ENSP00000392460.1:n.10+1555C>A
ENST00000570364.5:c.-74-669C>A ENSP00000461103.1:n.-74-669C>A
ENST00000573482.5:c.-74-669C>A ENSP00000460286.1:n.-74-669C>A
ENST00000574958.1:c.-74-669C>A ENSP00000458896.1:n.-74-669C>A
ENST00000576383.1:c.-23-2546C>A ENSP00000461368.1:n.-23-2546C>A
NM_015721.2:c.10+1555C>A NP_056536.2:n.10+1555C>A
XM_005256667.3:c.-74-669C>A XP_005256724.1:n.-74-669C>A
XM_005256670.3:c.-24+2040C>A XP_005256727.1:n.-24+2040C>A
XM_011523910.1:c.-74-669C>A XP_011522212.1:n.-74-669C>A
XM_011523911.1:c.-74-669C>A XP_011522213.1:n.-74-669C>A
XM_011523912.1:c.-605C>A XP_011522214.1:n.-605C>A
XM_011523913.1:c.-24+1073C>A XP_011522215.1:n.-24+1073C>A
XM_005256667.4:c.-74-669C>A XP_005256724.1:n.-74-669C>A
XM_005256670.5:c.-24+2040C>A XP_005256727.1:n.-24+2040C>A
XM_011523910.2:c.-74-669C>A XP_011522212.1:n.-74-669C>A
XM_011523911.2:c.-74-669C>A XP_011522213.1:n.-74-669C>A
XM_011523912.2:c.-605C>A XP_011522214.1:n.-605C>A
XM_011523913.2:c.-24+1073C>A XP_011522215.1:n.-24+1073C>A
XM_017024709.1:c.-326-330C>A XP_016880198.1:n.-326-330C>A
NM_015721.3:c.10+1555C>A MANE Select NP_056536.2:n.10+1555C>A
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