Canonical Allele Identifier: CA152440

Gene: CNTN1

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40980997T>C , CM000674.2:g.40980997T>C	GRCh38
NC_000012.11:g.41374799T>C , CM000674.1:g.41374799T>C	GRCh37
NC_000012.10:g.39661066T>C	NCBI36
NG_012058.2:g.293442T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000551295.7:c.1893T>C MANE Select	ENSP00000447006.1:p.His631=
ENST00000347616.5:c.1893T>C	ENSP00000325660.3:p.His631=
ENST00000348761.2:c.1860T>C	ENSP00000261160.3:p.His620=
ENST00000551295.6:c.1893T>C	ENSP00000447006.1:p.His631=
NM_001843.3:c.1893T>C	NP_001834.2:p.His631=
NM_175038.2:c.1860T>C	NP_778203.1:p.His620=
XM_005268651.1:c.1893T>C	XP_005268708.1:p.His631=
XM_006719241.1:c.1893T>C	XP_006719304.1:p.His631=
XM_011537926.1:c.1893T>C	XP_011536228.1:p.His631=
XM_011537927.1:c.1893T>C	XP_011536229.1:p.His631=
XM_005268651.2:c.1893T>C	XP_005268708.1:p.His631=
XM_006719241.2:c.1893T>C	XP_006719304.1:p.His631=
XM_011537926.3:c.1893T>C	XP_011536228.1:p.His631=
XM_011537927.2:c.1893T>C	XP_011536229.1:p.His631=
XR_002957288.1:n.2115T>C
XR_002957289.1:n.2236T>C
XR_002957290.1:n.2483T>C
XR_002957291.1:n.2107T>C
NM_001843.4:c.1893T>C MANE Select	NP_001834.2:p.His631=