Canonical Allele Identifier: CA384425188

Gene: CNTN1

Linked Data

• ClinVar Variation Id: 469412
• ClinVar RCV Id: RCV000539454
• dbSNP Id: rs1555185778
• gnomAD v4: 12-40944171-G-A
• MyVariant Identifiers: chr12:g.41337973G>A (hg19) ; chr12:g.40944171G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.40944171G>A , CM000674.2:g.40944171G>A	GRCh38
NC_000012.11:g.41337973G>A , CM000674.1:g.41337973G>A	GRCh37
NC_000012.10:g.39624240G>A	NCBI36
NG_012058.2:g.256616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000547849.6:c.1683+1G>A	ENSP00000448653.1:n.1683+1G>A
ENST00000551295.7:c.1683+1G>A MANE Select	ENSP00000447006.1:n.1683+1G>A
ENST00000347616.5:c.1683+1G>A	ENSP00000325660.3:n.1683+1G>A
ENST00000348761.2:c.1650+1G>A	ENSP00000261160.3:n.1650+1G>A
ENST00000547702.5:c.1683+1G>A	ENSP00000448004.1:n.1683+1G>A
ENST00000547849.5:c.1683+1G>A	ENSP00000448653.1:n.1683+1G>A
ENST00000551295.6:c.1683+1G>A	ENSP00000447006.1:n.1683+1G>A
NM_001256063.1:c.1683+1G>A	NP_001242992.1:n.1683+1G>A
NM_001256064.1:c.1683+1G>A	NP_001242993.1:n.1683+1G>A
NM_001843.3:c.1683+1G>A	NP_001834.2:n.1683+1G>A
NM_175038.2:c.1650+1G>A	NP_778203.1:n.1650+1G>A
XM_005268651.1:c.1683+1G>A	XP_005268708.1:n.1683+1G>A
XM_006719241.1:c.1683+1G>A	XP_006719304.1:n.1683+1G>A
XM_011537926.1:c.1683+1G>A	XP_011536228.1:n.1683+1G>A
XM_011537927.1:c.1683+1G>A	XP_011536229.1:n.1683+1G>A
XM_005268651.2:c.1683+1G>A	XP_005268708.1:n.1683+1G>A
XM_006719241.2:c.1683+1G>A	XP_006719304.1:n.1683+1G>A
XM_011537926.3:c.1683+1G>A	XP_011536228.1:n.1683+1G>A
XM_011537927.2:c.1683+1G>A	XP_011536229.1:n.1683+1G>A
XM_017018826.2:c.1683+1G>A	XP_016874315.1:n.1683+1G>A
XM_017018827.2:c.1683+1G>A	XP_016874316.1:n.1683+1G>A
XM_024448843.1:c.1683+1G>A	XP_024304611.1:n.1683+1G>A
XR_002957288.1:n.1905+1G>A
XR_002957289.1:n.2026+1G>A
XR_002957290.1:n.2273+1G>A
XR_002957291.1:n.1897+1G>A
NM_001843.4:c.1683+1G>A MANE Select	NP_001834.2:n.1683+1G>A
NM_001256063.2:c.1683+1G>A	NP_001242992.1:n.1683+1G>A
NM_001256064.2:c.1683+1G>A	NP_001242993.1:n.1683+1G>A