Canonical Allele Identifier: CA834860070

Gene: CNTNAP2

Linked Data

• ClinVar Variation Id: 1603959
• ClinVar RCV Id: RCV002147221
• dbSNP Id: rs1447717786
• gnomAD v4: 7-147132520-C-A
• MyVariant Identifiers: chr7:g.146829612C>A (hg19) ; chr7:g.147132520C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132520C>A , CM000669.2:g.147132520C>A	GRCh38
NC_000007.13:g.146829612C>A , CM000669.1:g.146829612C>A	GRCh37
NC_000007.12:g.146460545C>A	NCBI36
NG_007092.2:g.1021160C>A
NG_007092.3:g.1021520C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1348+11C>A MANE Select	ENSP00000354778.3:n.1348+11C>A
ENST00000636561.1:n.1251+11C>A
ENST00000636870.1:n.1210+11C>A
ENST00000637150.1:n.1277+11C>A
ENST00000637694.1:n.1251+11C>A
ENST00000637825.1:n.831+11C>A
ENST00000638117.1:n.1251+11C>A
ENST00000361727.7:c.1348+11C>A	ENSP00000354778.3:n.1348+11C>A
NM_014141.5:c.1348+11C>A	NP_054860.1:n.1348+11C>A
XM_017011950.2:c.1348+11C>A	XP_016867439.1:n.1348+11C>A
NM_014141.6:c.1348+11C>A MANE Select	NP_054860.1:n.1348+11C>A