Canonical Allele Identifier: CA396805857

Gene: CNTNAP4

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.76452712G>C , CM000678.2:g.76452712G>C	GRCh38
NC_000016.9:g.76486609G>C , CM000678.1:g.76486609G>C	GRCh37
NC_000016.8:g.75044110G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000611870.5:c.1276G>C MANE Select	ENSP00000479811.1:p.Gly426Arg
ENST00000655556.1:c.1276G>C	ENSP00000499374.1:p.Gly426Arg
ENST00000307431.12:c.1276G>C	ENSP00000306893.9:p.Gly426Arg
ENST00000377504.8:c.1132G>C	ENSP00000439733.2:p.Gly378Arg
ENST00000471618.5:n.1245G>C
ENST00000476707.1:c.1285G>C	ENSP00000417628.1:p.Gly429Arg
ENST00000478060.5:c.1057G>C	ENSP00000418741.1:p.Gly353Arg
ENST00000611870.4:c.1276G>C	ENSP00000479811.1:p.Gly426Arg
ENST00000622250.4:c.1132G>C	ENSP00000477698.1:p.Gly378Arg
NM_033401.3:c.1276G>C	NP_207837.2:p.Gly426Arg
NM_138994.3:c.1057G>C	NP_620481.2:p.Gly353Arg
XM_011523402.1:c.1285G>C	XP_011521704.1:p.Gly429Arg
XM_011523403.1:c.1201G>C	XP_011521705.1:p.Gly401Arg
XM_011523404.1:c.349G>C	XP_011521706.1:p.Gly117Arg
NM_001322178.1:c.1276G>C	NP_001309107.1:p.Gly426Arg
NM_001322179.1:c.1276G>C	NP_001309108.1:p.Gly426Arg
NM_001322180.1:c.889G>C	NP_001309109.1:p.Gly297Arg
NM_001322181.1:c.1273G>C	NP_001309110.1:p.Gly425Arg
NM_001322187.1:c.-211G>C	NP_001309116.1:n.-211G>C
NM_001322188.1:c.1276G>C	NP_001309117.1:p.Gly426Arg
NM_001322189.1:c.1012G>C	NP_001309118.1:p.Gly338Arg
NM_001322190.1:c.1132G>C	NP_001309119.1:p.Gly378Arg
NM_001322191.1:c.349G>C	NP_001309120.1:p.Gly117Arg
NM_033401.4:c.1276G>C	NP_207837.2:p.Gly426Arg
NM_138994.4:c.1057G>C	NP_620481.2:p.Gly353Arg
NR_136210.1:n.1722G>C
NR_136213.1:n.1717G>C
NR_136216.1:n.1722G>C
XM_011523403.2:c.1201G>C	XP_011521705.1:p.Gly401Arg
XM_017023805.2:c.349G>C	XP_016879294.1:p.Gly117Arg
XR_001752013.1:n.1563G>C
NM_033401.5:c.1276G>C MANE Select	NP_207837.2:p.Gly426Arg
NM_001322178.2:c.1276G>C	NP_001309107.1:p.Gly426Arg
NM_001322179.2:c.1276G>C	NP_001309108.1:p.Gly426Arg
NM_001322180.2:c.889G>C	NP_001309109.1:p.Gly297Arg
NM_001322181.2:c.1273G>C	NP_001309110.1:p.Gly425Arg
NM_001322187.2:c.-211G>C	NP_001309116.1:n.-211G>C
NM_001322188.2:c.1276G>C	NP_001309117.1:p.Gly426Arg
NM_001322189.2:c.1012G>C	NP_001309118.1:p.Gly338Arg
NM_001322190.2:c.1132G>C	NP_001309119.1:p.Gly378Arg
NM_001322191.2:c.349G>C	NP_001309120.1:p.Gly117Arg
NM_138994.5:c.1057G>C	NP_620481.2:p.Gly353Arg
NR_136210.2:n.1538G>C
NR_136213.2:n.1533G>C
NR_136216.2:n.1538G>C