Canonical Allele Identifier: CA6517196
Gene: CNTN1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.41025270G>A
GRCh37 chr12:g.41419072G>A
Revel Score:
ENST00000551295 (MANE Select) 0.144
ENST00000347616 0.144
ENST00000348761 0.144
gnomAD v2:
12:41419072 G / A
gnomAD v3:
12:41025270 G / A
gnomAD v4:
chr12-41025270-G-A
Joint Max Group AF 0.00041758 (SAS)
Genomes Max Group AF 0.00007315 (SAS)
Exomes Max Group AF 0.00042065 (SAS)
ClinVar RCV:
RCV000487172
RCV001205215
ClinVar Variation:
421523
dbSNP:
138121813
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.41025270G>A , CM000674.2:g.41025270G>A GRCh38
NC_000012.11:g.41419072G>A , CM000674.1:g.41419072G>A GRCh37
NC_000012.10:g.39705339G>A NCBI36
NG_012058.2:g.337715G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000551295.7:c.2644G>A MANE Select ENSP00000447006.1:p.Gly882Arg
ENST00000347616.5:c.2644G>A ENSP00000325660.3:p.Gly882Arg
ENST00000348761.2:c.2611G>A ENSP00000261160.3:p.Gly871Arg
ENST00000550305.1:n.603G>A
ENST00000551295.6:c.2644G>A ENSP00000447006.1:p.Gly882Arg
NM_001843.3:c.2644G>A NP_001834.2:p.Gly882Arg
NM_175038.2:c.2611G>A NP_778203.1:p.Gly871Arg
XM_005268651.1:c.2644G>A XP_005268708.1:p.Gly882Arg
XM_006719241.1:c.2644G>A XP_006719304.1:p.Gly882Arg
XM_011537926.1:c.2644G>A XP_011536228.1:p.Gly882Arg
XM_011537927.1:c.2644G>A XP_011536229.1:p.Gly882Arg
XM_005268651.2:c.2644G>A XP_005268708.1:p.Gly882Arg
XM_006719241.2:c.2644G>A XP_006719304.1:p.Gly882Arg
XM_011537926.3:c.2644G>A XP_011536228.1:p.Gly882Arg
XM_011537927.2:c.2644G>A XP_011536229.1:p.Gly882Arg
XR_002957288.1:n.2866G>A
XR_002957289.1:n.2987G>A
XR_002957290.1:n.3234G>A
XR_002957291.1:n.2858G>A
NM_001843.4:c.2644G>A MANE Select NP_001834.2:p.Gly882Arg
Search 100 bp 5'
Search 100 bp 3'