Canonical Allele Identifier: CA479269397

Gene: CNTN1

Linked Data

• ClinVar Variation Id: 515147
• ClinVar RCV Id: RCV000611773 ; RCV002531628
• dbSNP Id: rs1555180947
• MyVariant Identifiers: chr12:g.41316172T>C (hg19) ; chr12:g.40922370T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40922370T>C , CM000674.2:g.40922370T>C	GRCh38
NC_000012.11:g.41316172T>C , CM000674.1:g.41316172T>C	GRCh37
NC_000012.10:g.39602439T>C	NCBI36
NG_012058.2:g.234815T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547849.6:c.342T>C	ENSP00000448653.1:p.Cys114=
ENST00000551295.7:c.342T>C MANE Select	ENSP00000447006.1:p.Cys114=
ENST00000347616.5:c.342T>C	ENSP00000325660.3:p.Cys114=
ENST00000348761.2:c.309T>C	ENSP00000261160.3:p.Cys103=
ENST00000547702.5:c.342T>C	ENSP00000448004.1:p.Cys114=
ENST00000547849.5:c.342T>C	ENSP00000448653.1:p.Cys114=
ENST00000551295.6:c.342T>C	ENSP00000447006.1:p.Cys114=
NM_001256063.1:c.342T>C	NP_001242992.1:p.Cys114=
NM_001256064.1:c.342T>C	NP_001242993.1:p.Cys114=
NM_001843.3:c.342T>C	NP_001834.2:p.Cys114=
NM_175038.2:c.309T>C	NP_778203.1:p.Cys103=
XM_005268651.1:c.342T>C	XP_005268708.1:p.Cys114=
XM_006719241.1:c.342T>C	XP_006719304.1:p.Cys114=
XM_011537926.1:c.342T>C	XP_011536228.1:p.Cys114=
XM_011537927.1:c.342T>C	XP_011536229.1:p.Cys114=
XM_005268651.2:c.342T>C	XP_005268708.1:p.Cys114=
XM_006719241.2:c.342T>C	XP_006719304.1:p.Cys114=
XM_011537926.3:c.342T>C	XP_011536228.1:p.Cys114=
XM_011537927.2:c.342T>C	XP_011536229.1:p.Cys114=
XM_017018826.2:c.342T>C	XP_016874315.1:p.Cys114=
XM_017018827.2:c.342T>C	XP_016874316.1:p.Cys114=
XM_024448843.1:c.342T>C	XP_024304611.1:p.Cys114=
XR_002957288.1:n.564T>C
XR_002957289.1:n.685T>C
XR_002957290.1:n.932T>C
XR_002957291.1:n.556T>C
NM_001843.4:c.342T>C MANE Select	NP_001834.2:p.Cys114=
NM_001256063.2:c.342T>C	NP_001242992.1:p.Cys114=
NM_001256064.2:c.342T>C	NP_001242993.1:p.Cys114=