Canonical Allele Identifier: CA397940726

Gene: CHD3

Linked Data

• ClinVar Variation Id: 520977
• ClinVar RCV Id: RCV000622848 ; RCV000722154 ; RCV000714488 ; RCV003325307
• dbSNP Id: rs1555611722
• MyVariant Identifiers: chr17:g.7804024C>T (hg19) ; chr17:g.7900706C>T (hg38)
• PubMed: PMID:27479843 ; PMID:28135719

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.7900706C>T , CM000679.2:g.7900706C>T	GRCh38
NC_000017.10:g.7804024C>T , CM000679.1:g.7804024C>T	GRCh37
NC_000017.9:g.7744749C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700753.1:c.3130C>T	ENSP00000515165.1:p.Arg1044Trp
ENST00000330494.12:c.2953C>T MANE Select	ENSP00000332628.7:p.Arg985Trp
ENST00000380358.9:c.3130C>T	ENSP00000369716.4:p.Arg1044Trp
ENST00000672838.1:c.2887C>T	ENSP00000500734.1:p.Arg963Trp
ENST00000330494.11:c.2953C>T	ENSP00000332628.7:p.Arg985Trp
ENST00000358181.8:c.2953C>T	ENSP00000350907.4:p.Arg985Trp
ENST00000380358.8:c.3130C>T	ENSP00000369716.4:p.Arg1044Trp
NM_001005271.2:c.3130C>T	NP_001005271.2:p.Arg1044Trp
NM_001005273.2:c.2953C>T	NP_001005273.1:p.Arg985Trp
NM_005852.3:c.2953C>T	NP_005843.2:p.Arg985Trp
XM_005256427.3:c.3130C>T	XP_005256484.1:p.Arg1044Trp
XM_005256428.3:c.3130C>T	XP_005256485.1:p.Arg1044Trp
XM_005256429.3:c.3130C>T	XP_005256486.1:p.Arg1044Trp
XM_005256431.3:c.3130C>T	XP_005256488.1:p.Arg1044Trp
XM_006721423.2:c.3130C>T	XP_006721486.1:p.Arg1044Trp
XM_006721424.2:c.3118C>T	XP_006721487.1:p.Arg1040Trp
XM_006721425.2:c.2860C>T	XP_006721488.2:p.Arg954Trp
XM_006721427.2:c.2893C>T	XP_006721490.1:p.Arg965Trp
XM_006721428.2:c.3130C>T	XP_006721491.1:p.Arg1044Trp
XM_006721430.2:c.3118C>T	XP_006721493.1:p.Arg1040Trp
XM_011523628.1:c.2920C>T	XP_011521930.1:p.Arg974Trp
XM_011523629.1:c.2920C>T	XP_011521931.1:p.Arg974Trp
XM_011523630.1:c.2860C>T	XP_011521932.1:p.Arg954Trp
XM_005256427.4:c.3130C>T	XP_005256484.1:p.Arg1044Trp
XM_005256428.4:c.3130C>T	XP_005256485.1:p.Arg1044Trp
XM_005256429.4:c.3130C>T	XP_005256486.1:p.Arg1044Trp
XM_005256431.4:c.3130C>T	XP_005256488.1:p.Arg1044Trp
XM_006721423.3:c.3130C>T	XP_006721486.1:p.Arg1044Trp
XM_006721424.3:c.3118C>T	XP_006721487.1:p.Arg1040Trp
XM_006721428.3:c.3130C>T	XP_006721491.1:p.Arg1044Trp
XM_017024061.1:c.3112C>T	XP_016879550.1:p.Arg1038Trp
XM_017024062.1:c.3100C>T	XP_016879551.1:p.Arg1034Trp
XM_017024063.1:c.2953C>T	XP_016879552.1:p.Arg985Trp
XM_017024064.1:c.3118C>T	XP_016879553.1:p.Arg1040Trp
XM_017024065.1:c.2926C>T	XP_016879554.1:p.Arg976Trp
XM_017024066.1:c.2893C>T	XP_016879555.1:p.Arg965Trp
XM_017024067.2:c.2920C>T	XP_016879556.1:p.Arg974Trp
XM_017024068.1:c.2893C>T	XP_016879557.1:p.Arg965Trp
XM_017024069.1:c.2449C>T	XP_016879558.1:p.Arg817Trp
XM_017024070.1:c.3100C>T	XP_016879559.1:p.Arg1034Trp
NM_001005271.3:c.3130C>T	NP_001005271.2:p.Arg1044Trp
NM_001005273.3:c.2953C>T MANE Select	NP_001005273.1:p.Arg985Trp
NM_005852.4:c.2953C>T	NP_005843.2:p.Arg985Trp