Canonical Allele Identifier: CA399638328

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs1355399251
• gnomAD v2: 17-40839954-G-A
• gnomAD v4: 17-42687936-G-A
• MyVariant Identifiers: chr17:g.40839954G>A (hg19) ; chr17:g.42687936G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687936G>A , CM000679.2:g.42687936G>A	GRCh38
NC_000017.10:g.40839954G>A , CM000679.1:g.40839954G>A	GRCh37
NC_000017.9:g.38093480G>A	NCBI36
NG_042091.1:g.10323G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1261G>A MANE Select	ENSP00000264638.3:p.Val421Met
ENST00000264638.8:c.1261G>A	ENSP00000264638.3:p.Val421Met
ENST00000586801.1:n.676G>A
ENST00000591662.1:c.1261G>A	ENSP00000466571.1:p.Val421Met
NM_003632.2:c.1261G>A	NP_003623.1:p.Val421Met
XM_005257748.3:c.1033G>A	XP_005257805.1:p.Val345Met
XM_005257748.4:c.1033G>A	XP_005257805.1:p.Val345Met
XM_017025238.1:c.1261G>A	XP_016880727.1:p.Val421Met
XM_024451011.1:c.1261G>A	XP_024306779.1:p.Val421Met
NM_003632.3:c.1261G>A MANE Select	NP_003623.1:p.Val421Met