Canonical Allele Identifier: CA2620690

Gene: ACKR4 ACAD11 NPHP3-ACAD11

Genomic Alleles

HGVS	Genome Assembly
NC_000003.12:g.132601238A>G , CM000665.2:g.132601238A>G	GRCh38
NC_000003.11:g.132320082A>G , CM000665.1:g.132320082A>G	GRCh37
NC_000003.10:g.133802772A>G	NCBI36
NG_042830.1:g.63894T>C

Transcript Alleles

HGVS	Amino-acid Change
NM_016557.4:c.841A>G (ACKR4) MANE Select	NP_057641.1:p.Met281Val
NM_032169.5:c.1621+1991T>C (ACAD11) MANE Select	NP_115545.3:n.1621+1991T>C
ENST00000249887.3:c.841A>G (ACKR4) MANE Select	ENSP00000249887.2:p.Met281Val
ENST00000264990.11:c.1621+1991T>C (ACAD11) MANE Select	ENSP00000264990.6:n.1621+1991T>C
NM_016557.3:c.841A>G (ACKR4)	NP_057641.1:p.Met281Val
NM_032169.4:c.1621+1991T>C (ACAD11)	NP_115545.3:n.1621+1991T>C
NM_178445.2:c.841A>G (ACKR4)	NP_848540.1:p.Met281Val
NR_037804.1:n.5623+1991T>C (NPHP3-ACAD11)
NR_132426.1:n.2001+1991T>C (ACAD11)
NR_132426.2:n.1679+1991T>C (ACAD11)
NR_132427.1:n.2001+1991T>C (ACAD11)
NR_132427.2:n.1679+1991T>C (ACAD11)
NR_132428.1:n.1784+1991T>C (ACAD11)
NR_132428.2:n.1462+1991T>C (ACAD11)
ENST00000249887.2:c.841A>G (ACKR4)	ENSP00000249887.2:p.Met281Val
ENST00000264990.10:c.1621+1991T>C (ACAD11)	ENSP00000264990.6:n.1621+1991T>C
ENST00000469042.5:n.1952+1991T>C (ACAD11)
ENST00000471702.2:c.*3608+1991T>C (NPHP3-ACAD11)	ENSP00000419763.1:n.*3608+1991T>C
ENST00000477604.5:n.165+1991T>C (ACAD11)
ENST00000485198.5:c.*102+1991T>C (ACAD11)	ENSP00000419973.1:n.*102+1991T>C
ENST00000487024.1:n.808+1991T>C (ACAD11)
ENST00000496418.5:n.1519+1991T>C (ACAD11)
ENST00000507705.5:n.452+1991T>C (ACAD11)
ENST00000510100.1:c.295+1991T>C (ACAD11)	ENSP00000423796.1:n.295+1991T>C