Canonical Allele Identifier: CA369924662

Gene: CNTNAP2

Linked Data

• dbSNP Id: rs1801392632
• gnomAD v3: 7-147132346-C-A
• gnomAD v4: 7-147132346-C-A
• COSMIC: COSM387853
• MyVariant Identifiers: chr7:g.146829438C>A (hg19) ; chr7:g.147132346C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.147132346C>A , CM000669.2:g.147132346C>A	GRCh38
NC_000007.13:g.146829438C>A , CM000669.1:g.146829438C>A	GRCh37
NC_000007.12:g.146460371C>A	NCBI36
NG_007092.2:g.1020986C>A
NG_007092.3:g.1021346C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361727.8:c.1185C>A MANE Select	ENSP00000354778.3:p.Phe395Leu
ENST00000636561.1:n.1088C>A
ENST00000636870.1:n.1047C>A
ENST00000637150.1:n.1114C>A
ENST00000637694.1:n.1088C>A
ENST00000637825.1:n.668C>A
ENST00000638117.1:n.1088C>A
ENST00000361727.7:c.1185C>A	ENSP00000354778.3:p.Phe395Leu
NM_014141.5:c.1185C>A	NP_054860.1:p.Phe395Leu
XM_017011950.2:c.1185C>A	XP_016867439.1:p.Phe395Leu
NM_014141.6:c.1185C>A MANE Select	NP_054860.1:p.Phe395Leu