Canonical Allele Identifier: CA479265346
Gene: CNTN1 HGNC NCBI

Linked Data

ClinVar Variation Id: 537197
ClinVar RCV Id: RCV000645990
dbSNP Id: rs1555180046

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.40918676A>G , CM000674.2:g.40918676A>G GRCh38
NC_000012.11:g.41312478A>G , CM000674.1:g.41312478A>G GRCh37
NC_000012.10:g.39598745A>G NCBI36
NG_012058.2:g.231121A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000547849.6:c.132A>G ENSP00000448653.1:p.Glu44=
ENST00000551295.7:c.132A>G MANE Select ENSP00000447006.1:p.Glu44=
ENST00000347616.5:c.132A>G ENSP00000325660.3:p.Glu44=
ENST00000348761.2:c.99A>G ENSP00000261160.3:p.Glu33=
ENST00000547702.5:c.132A>G ENSP00000448004.1:p.Glu44=
ENST00000547849.5:c.132A>G ENSP00000448653.1:p.Glu44=
ENST00000548005.5:c.132A>G ENSP00000447862.1:p.Glu44=
ENST00000551295.6:c.132A>G ENSP00000447006.1:p.Glu44=
ENST00000551424.5:c.132A>G ENSP00000450412.1:p.Glu44=
ENST00000552248.5:c.132A>G ENSP00000447860.1:p.Glu44=
ENST00000552913.5:c.132A>G ENSP00000449706.1:p.Glu44=
NM_001256063.1:c.132A>G NP_001242992.1:p.Glu44=
NM_001256064.1:c.132A>G NP_001242993.1:p.Glu44=
NM_001843.3:c.132A>G NP_001834.2:p.Glu44=
NM_175038.2:c.99A>G NP_778203.1:p.Glu33=
XM_005268651.1:c.132A>G XP_005268708.1:p.Glu44=
XM_006719241.1:c.132A>G XP_006719304.1:p.Glu44=
XM_011537926.1:c.132A>G XP_011536228.1:p.Glu44=
XM_011537927.1:c.132A>G XP_011536229.1:p.Glu44=
XM_005268651.2:c.132A>G XP_005268708.1:p.Glu44=
XM_006719241.2:c.132A>G XP_006719304.1:p.Glu44=
XM_011537926.3:c.132A>G XP_011536228.1:p.Glu44=
XM_011537927.2:c.132A>G XP_011536229.1:p.Glu44=
XM_017018826.2:c.132A>G XP_016874315.1:p.Glu44=
XM_017018827.2:c.132A>G XP_016874316.1:p.Glu44=
XM_024448843.1:c.132A>G XP_024304611.1:p.Glu44=
XR_002957288.1:n.354A>G
XR_002957289.1:n.475A>G
XR_002957290.1:n.722A>G
XR_002957291.1:n.346A>G
NM_001843.4:c.132A>G MANE Select NP_001834.2:p.Glu44=
NM_001256063.2:c.132A>G NP_001242992.1:p.Glu44=
NM_001256064.2:c.132A>G NP_001242993.1:p.Glu44=