Canonical Allele Identifier: CA458577923

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1801391947
• gnomAD v4: 7-147132319-G-A
• MyVariant Identifiers: chr7:g.146829411G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132319G>A , CM000669.2:g.147132319G>A	GRCh38
NC_000007.13:g.146829411G>A , CM000669.1:g.146829411G>A	GRCh37
NC_000007.12:g.146460344G>A	NCBI36
NG_007092.2:g.1020959G>A
NG_007092.3:g.1021319G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000361727.8:c.1158G>A MANE Select	ENSP00000354778.3:p.Val386=
ENST00000636561.1:n.1061G>A
ENST00000636870.1:n.1020G>A
ENST00000637150.1:n.1087G>A
ENST00000637694.1:n.1061G>A
ENST00000637825.1:n.641G>A
ENST00000638117.1:n.1061G>A
ENST00000361727.7:c.1158G>A	ENSP00000354778.3:p.Val386=
NM_014141.5:c.1158G>A	NP_054860.1:p.Val386=
XM_017011950.2:c.1158G>A	XP_016867439.1:p.Val386=
NM_014141.6:c.1158G>A MANE Select	NP_054860.1:p.Val386=