Canonical Allele Identifier: CA399638118

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs1295028420
• gnomAD v3: 17-42687891-G-C
• gnomAD v4: 17-42687891-G-C
• MyVariant Identifiers: chr17:g.40839909G>C (hg19) ; chr17:g.42687891G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687891G>C , CM000679.2:g.42687891G>C	GRCh38
NC_000017.10:g.40839909G>C , CM000679.1:g.40839909G>C	GRCh37
NC_000017.9:g.38093435G>C	NCBI36
NG_042091.1:g.10278G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1216G>C MANE Select	ENSP00000264638.3:p.Gly406Arg
ENST00000264638.8:c.1216G>C	ENSP00000264638.3:p.Gly406Arg
ENST00000586801.1:n.631G>C
ENST00000591662.1:c.1216G>C	ENSP00000466571.1:p.Gly406Arg
NM_003632.2:c.1216G>C	NP_003623.1:p.Gly406Arg
XM_005257748.3:c.988G>C	XP_005257805.1:p.Gly330Arg
XM_005257748.4:c.988G>C	XP_005257805.1:p.Gly330Arg
XM_017025238.1:c.1216G>C	XP_016880727.1:p.Gly406Arg
XM_024451011.1:c.1216G>C	XP_024306779.1:p.Gly406Arg
NM_003632.3:c.1216G>C MANE Select	NP_003623.1:p.Gly406Arg