Canonical Allele Identifier: CA396812998

Gene: CNTNAP4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.76489856A>G , CM000678.2:g.76489856A>G	GRCh38
NC_000016.9:g.76523753A>G , CM000678.1:g.76523753A>G	GRCh37
NC_000016.8:g.75081254A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611870.5:c.2053A>G MANE Select	ENSP00000479811.1:p.Lys685Glu
ENST00000655556.1:c.2053A>G	ENSP00000499374.1:p.Lys685Glu
ENST00000307431.12:c.2053A>G	ENSP00000306893.9:p.Lys685Glu
ENST00000377504.8:c.1909A>G	ENSP00000439733.2:p.Lys637Glu
ENST00000471618.5:n.2022A>G
ENST00000476707.1:c.2062A>G	ENSP00000417628.1:p.Lys688Glu
ENST00000478060.5:c.1834A>G	ENSP00000418741.1:p.Lys612Glu
ENST00000611870.4:c.2053A>G	ENSP00000479811.1:p.Lys685Glu
ENST00000622250.4:c.1909A>G	ENSP00000477698.1:p.Lys637Glu
NM_033401.3:c.2053A>G	NP_207837.2:p.Lys685Glu
NM_138994.3:c.1834A>G	NP_620481.2:p.Lys612Glu
XM_011523402.1:c.2062A>G	XP_011521704.1:p.Lys688Glu
XM_011523403.1:c.1978A>G	XP_011521705.1:p.Lys660Glu
XM_011523404.1:c.1126A>G	XP_011521706.1:p.Lys376Glu
NM_001322178.1:c.1903A>G	NP_001309107.1:p.Lys635Glu
NM_001322179.1:c.2053A>G	NP_001309108.1:p.Lys685Glu
NM_001322180.1:c.1666A>G	NP_001309109.1:p.Lys556Glu
NM_001322181.1:c.2050A>G	NP_001309110.1:p.Lys684Glu
NM_001322187.1:c.637A>G	NP_001309116.1:p.Lys213Glu
NM_001322188.1:c.2053A>G	NP_001309117.1:p.Lys685Glu
NM_001322189.1:c.1789A>G	NP_001309118.1:p.Lys597Glu
NM_001322190.1:c.1909A>G	NP_001309119.1:p.Lys637Glu
NM_001322191.1:c.1126A>G	NP_001309120.1:p.Lys376Glu
NM_033401.4:c.2053A>G	NP_207837.2:p.Lys685Glu
NM_138994.4:c.1834A>G	NP_620481.2:p.Lys612Glu
NR_136210.1:n.2499A>G
NR_136213.1:n.2540A>G
NR_136216.1:n.2728A>G
XM_011523403.2:c.1978A>G	XP_011521705.1:p.Lys660Glu
XM_017023805.2:c.1126A>G	XP_016879294.1:p.Lys376Glu
XR_001752013.1:n.2386A>G
NM_033401.5:c.2053A>G MANE Select	NP_207837.2:p.Lys685Glu
NM_001322178.2:c.1903A>G	NP_001309107.1:p.Lys635Glu
NM_001322179.2:c.2053A>G	NP_001309108.1:p.Lys685Glu
NM_001322180.2:c.1666A>G	NP_001309109.1:p.Lys556Glu
NM_001322181.2:c.2050A>G	NP_001309110.1:p.Lys684Glu
NM_001322187.2:c.637A>G	NP_001309116.1:p.Lys213Glu
NM_001322188.2:c.2053A>G	NP_001309117.1:p.Lys685Glu
NM_001322189.2:c.1789A>G	NP_001309118.1:p.Lys597Glu
NM_001322190.2:c.1909A>G	NP_001309119.1:p.Lys637Glu
NM_001322191.2:c.1126A>G	NP_001309120.1:p.Lys376Glu
NM_138994.5:c.1834A>G	NP_620481.2:p.Lys612Glu
NR_136210.2:n.2315A>G
NR_136213.2:n.2356A>G
NR_136216.2:n.2544A>G