Canonical Allele Identifier: CA351447868

Gene: CNTN4

Linked Data

• ClinVar Variation Id: 3146759
• ClinVar RCV Id: RCV004442129
• MyVariant Identifiers: chr3:g.3080624A>T (hg19) ; chr3:g.3038940A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.3038940A>T , CM000665.2:g.3038940A>T	GRCh38
NC_000003.11:g.3080624A>T , CM000665.1:g.3080624A>T	GRCh37
NC_000003.10:g.3055624A>T	NCBI36
NG_012827.1:g.943378A>T
NG_012827.2:g.943378A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000418658.6:c.2100A>T MANE Select	ENSP00000396010.1:p.Glu700Asp
ENST00000397459.6:c.1116A>T	ENSP00000380600.2:p.Glu372Asp
ENST00000397461.5:c.2100A>T	ENSP00000380602.1:p.Glu700Asp
ENST00000418658.5:c.2100A>T	ENSP00000396010.1:p.Glu700Asp
ENST00000427331.5:c.2100A>T	ENSP00000413642.1:p.Glu700Asp
ENST00000427741.5:c.*1295A>T	ENSP00000396719.1:n.*1295A>T
NM_001206955.1:c.2100A>T	NP_001193884.1:p.Glu700Asp
NM_001206956.1:c.1113A>T	NP_001193885.1:p.Glu371Asp
NM_175607.2:c.2100A>T	NP_783200.1:p.Glu700Asp
NM_175613.2:c.1116A>T	NP_783302.1:p.Glu372Asp
XM_006713004.2:c.2097A>T	XP_006713067.1:p.Glu699Asp
XM_011533425.1:c.2100A>T	XP_011531727.1:p.Glu700Asp
XM_011533426.1:c.2100A>T	XP_011531728.1:p.Glu700Asp
XM_011533427.1:c.2100A>T	XP_011531729.1:p.Glu700Asp
XM_011533428.1:c.2100A>T	XP_011531730.1:p.Glu700Asp
XM_011533429.1:c.2100A>T	XP_011531731.1:p.Glu700Asp
XM_011533430.1:c.2100A>T	XP_011531732.1:p.Glu700Asp
XM_011533431.1:c.2067A>T	XP_011531733.1:p.Glu689Asp
NM_001350095.1:c.2100A>T	NP_001337024.1:p.Glu700Asp
XM_006713004.4:c.2097A>T	XP_006713067.1:p.Glu699Asp
XM_011533425.3:c.2100A>T	XP_011531727.1:p.Glu700Asp
XM_011533427.2:c.2100A>T	XP_011531729.1:p.Glu700Asp
XM_011533428.2:c.2100A>T	XP_011531730.1:p.Glu700Asp
XM_011533429.2:c.2100A>T	XP_011531731.1:p.Glu700Asp
XM_011533430.2:c.2100A>T	XP_011531732.1:p.Glu700Asp
XM_011533431.2:c.2067A>T	XP_011531733.1:p.Glu689Asp
XM_017005782.1:c.2100A>T	XP_016861271.1:p.Glu700Asp
XM_017005783.1:c.2100A>T	XP_016861272.1:p.Glu700Asp
XM_017005784.2:c.2100A>T	XP_016861273.1:p.Glu700Asp
XM_017005785.1:c.2097A>T	XP_016861274.1:p.Glu699Asp
XM_017005786.1:c.2097A>T	XP_016861275.1:p.Glu699Asp
XM_017005787.1:c.2097A>T	XP_016861276.1:p.Glu699Asp
NM_175607.3:c.2100A>T MANE Select	NP_783200.1:p.Glu700Asp
NM_001206955.2:c.2100A>T	NP_001193884.1:p.Glu700Asp
NM_001206956.2:c.1113A>T	NP_001193885.1:p.Glu371Asp
NM_001350095.2:c.2100A>T	NP_001337024.1:p.Glu700Asp
NM_175613.3:c.1116A>T	NP_783302.1:p.Glu372Asp