Canonical Allele Identifier: CA14086646
Gene: CHRNB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78628735C>G , CM000677.2:g.78628735C>G GRCh38
NC_000015.9:g.78921077C>G , CM000677.1:g.78921077C>G GRCh37
NC_000015.8:g.76708132C>G NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000261751.8:c.1338+232G>C MANE Select ENSP00000261751.3:n.1338+232G>C
ENST00000261751.7:c.1338+232G>C ENSP00000261751.3:n.1338+232G>C
ENST00000412074.6:c.359+2341G>C ENSP00000416386.2:n.359+2341G>C
NM_000750.3:c.1338+232G>C NP_000741.1:n.1338+232G>C
NM_001256567.1:c.359+2341G>C NP_001243496.1:n.359+2341G>C
XM_011521181.1:c.1521+232G>C XP_011519483.1:n.1521+232G>C
XM_011521182.1:c.1539G>C XP_011519484.1:p.Thr513=
XM_011521183.1:c.1521+232G>C XP_011519485.1:n.1521+232G>C
XM_011521184.1:c.1521+232G>C XP_011519486.1:n.1521+232G>C
XM_011521185.1:c.1521+232G>C XP_011519487.1:n.1521+232G>C
XM_011521186.1:c.1329+232G>C XP_011519488.1:n.1329+232G>C
XM_011521187.1:c.1329+232G>C XP_011519489.1:n.1329+232G>C
XM_011521188.1:c.1248+232G>C XP_011519490.1:n.1248+232G>C
XM_011521189.1:c.1173+232G>C XP_011519491.1:n.1173+232G>C
XM_011521190.1:c.1116+232G>C XP_011519492.1:n.1116+232G>C
XM_011521191.1:c.1116+232G>C XP_011519493.1:n.1116+232G>C
XM_011521192.1:c.792+232G>C XP_011519494.1:n.792+232G>C
XM_011521193.1:c.542+2341G>C XP_011519495.1:n.542+2341G>C
NM_000750.4:c.1338+232G>C NP_000741.1:n.1338+232G>C
NM_001256567.2:c.359+2341G>C NP_001243496.1:n.359+2341G>C
XM_011521186.2:c.1329+232G>C XP_011519488.1:n.1329+232G>C
XM_011521187.2:c.1329+232G>C XP_011519489.1:n.1329+232G>C
XM_011521190.2:c.1116+232G>C XP_011519492.1:n.1116+232G>C
XM_011521191.2:c.1116+232G>C XP_011519493.1:n.1116+232G>C
XM_011521192.2:c.792+232G>C XP_011519494.1:n.792+232G>C
XM_017021885.1:c.1248+232G>C XP_016877374.1:n.1248+232G>C
XM_017021886.1:c.1248+232G>C XP_016877375.1:n.1248+232G>C
XM_017021887.1:c.1356G>C XP_016877376.1:p.Thr452=
XM_017021888.1:c.1338+232G>C XP_016877377.1:n.1338+232G>C
XM_017021889.2:c.1338+232G>C XP_016877378.1:n.1338+232G>C
NM_000750.5:c.1338+232G>C MANE Select NP_000741.1:n.1338+232G>C
NM_001256567.3:c.359+2341G>C NP_001243496.1:n.359+2341G>C