Canonical Allele Identifier: CA399637928
Gene: CNTNAP1 HGNC NCBI

Linked Data

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