Canonical Allele Identifier: CA1108410403

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1800289425
• gnomAD v3: 7-147571416-C-T
• gnomAD v4: 7-147571416-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147571416C>T , CM000669.2:g.147571416C>T	GRCh38
NC_000007.13:g.147268508C>T , CM000669.1:g.147268508C>T	GRCh37
NC_000007.12:g.146899441C>T	NCBI36
NG_007092.2:g.1460056C>T
NG_007092.3:g.1460416C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1897+9159C>T MANE Select	ENSP00000354778.3:n.1897+9159C>T
ENST00000636870.1:n.1759+9159C>T
ENST00000637825.1:n.1380+9159C>T
ENST00000638117.1:n.1800+9159C>T
ENST00000361727.7:c.1897+9159C>T	ENSP00000354778.3:n.1897+9159C>T
NM_014141.5:c.1897+9159C>T	NP_054860.1:n.1897+9159C>T
XM_006715919.1:c.385+9159C>T	XP_006715982.1:n.385+9159C>T
XM_017011950.2:c.1897+9159C>T	XP_016867439.1:n.1897+9159C>T
NM_014141.6:c.1897+9159C>T MANE Select	NP_054860.1:n.1897+9159C>T