Canonical Allele Identifier: CA399637928

Gene: CNTNAP1

Linked Data

• MyVariant Identifiers: chr17:g.40839858T>C (hg19) ; chr17:g.42687840T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.42687840T>C , CM000679.2:g.42687840T>C	GRCh38
NC_000017.10:g.40839858T>C , CM000679.1:g.40839858T>C	GRCh37
NC_000017.9:g.38093384T>C	NCBI36
NG_042091.1:g.10227T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000264638.9:c.1165T>C MANE Select	ENSP00000264638.3:p.Phe389Leu
ENST00000264638.8:c.1165T>C	ENSP00000264638.3:p.Phe389Leu
ENST00000586801.1:n.580T>C
ENST00000591662.1:c.1165T>C	ENSP00000466571.1:p.Phe389Leu
NM_003632.2:c.1165T>C	NP_003623.1:p.Phe389Leu
XM_005257748.3:c.937T>C	XP_005257805.1:p.Phe313Leu
XM_005257748.4:c.937T>C	XP_005257805.1:p.Phe313Leu
XM_017025238.1:c.1165T>C	XP_016880727.1:p.Phe389Leu
XM_024451011.1:c.1165T>C	XP_024306779.1:p.Phe389Leu
NM_003632.3:c.1165T>C MANE Select	NP_003623.1:p.Phe389Leu