Canonical Allele Identifier: CA399637609

Gene: CNTNAP1

Linked Data

• dbSNP Id: rs1332830712
• gnomAD v2: 17-40839763-A-C
• gnomAD v4: 17-42687745-A-C
• MyVariant Identifiers: chr17:g.40839763A>C (hg19) ; chr17:g.42687745A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687745A>C , CM000679.2:g.42687745A>C	GRCh38
NC_000017.10:g.40839763A>C , CM000679.1:g.40839763A>C	GRCh37
NC_000017.9:g.38093289A>C	NCBI36
NG_042091.1:g.10132A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000264638.9:c.1070A>C MANE Select	ENSP00000264638.3:p.Asp357Ala
ENST00000264638.8:c.1070A>C	ENSP00000264638.3:p.Asp357Ala
ENST00000586801.1:n.485A>C
ENST00000591662.1:c.1070A>C	ENSP00000466571.1:p.Asp357Ala
NM_003632.2:c.1070A>C	NP_003623.1:p.Asp357Ala
XM_005257748.3:c.842A>C	XP_005257805.1:p.Asp281Ala
XM_005257748.4:c.842A>C	XP_005257805.1:p.Asp281Ala
XM_017025238.1:c.1070A>C	XP_016880727.1:p.Asp357Ala
XM_024451011.1:c.1070A>C	XP_024306779.1:p.Asp357Ala
NM_003632.3:c.1070A>C MANE Select	NP_003623.1:p.Asp357Ala