Canonical Allele Identifier: CA2189576467
Community Standard Title: NM_000750.5(CHRNB4):c.272C= (p.Thr91=)
Gene: CHRNB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78631163G= , CM000677.2:g.78631163G= GRCh38
NC_000015.9:g.78923505G= , CM000677.1:g.78923505G= GRCh37
NC_000015.8:g.76710560G= NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_000750.5:c.272C= MANE Select NP_000741.1:p.Thr91=
ENST00000261751.8:c.272C= MANE Select ENSP00000261751.3:p.Thr91=
NM_000750.3:c.272C= NP_000741.1:p.Thr91=
NM_000750.4:c.272C= NP_000741.1:p.Thr91=
NM_001256567.1:c.272C= NP_001243496.1:p.Thr91=
NM_001256567.2:c.272C= NP_001243496.1:p.Thr91=
NM_001256567.3:c.272C= NP_001243496.1:p.Thr91=
ENST00000261751.7:c.272C= ENSP00000261751.3:p.Thr91=
ENST00000412074.6:c.272C= ENSP00000416386.2:p.Thr91=
ENST00000559849.5:c.*180C= ENSP00000457404.1:n.*180C=
ENST00000560511.5:n.626C=
XM_011521181.1:c.455C= XP_011519483.1:p.Thr152=
XM_011521182.1:c.455C= XP_011519484.1:p.Thr152=
XM_011521183.1:c.455C= XP_011519485.1:p.Thr152=
XM_011521184.1:c.455C= XP_011519486.1:p.Thr152=
XM_011521185.1:c.455C= XP_011519487.1:p.Thr152=
XM_011521186.1:c.263C= XP_011519488.1:p.Thr88=
XM_011521186.2:c.263C= XP_011519488.1:p.Thr88=
XM_011521187.1:c.263C= XP_011519489.1:p.Thr88=
XM_011521187.2:c.263C= XP_011519489.1:p.Thr88=
XM_011521188.1:c.182C= XP_011519490.1:p.Thr61=
XM_011521189.1:c.107C= XP_011519491.1:p.Thr36=
XM_011521190.1:c.50C= XP_011519492.1:p.Thr17=
XM_011521190.2:c.50C= XP_011519492.1:p.Thr17=
XM_011521191.1:c.50C= XP_011519493.1:p.Thr17=
XM_011521191.2:c.50C= XP_011519493.1:p.Thr17=
XM_011521192.1:c.-423C= XP_011519494.1:n.-423C=
XM_011521192.2:c.-423C= XP_011519494.1:n.-423C=
XM_011521193.1:c.455C= XP_011519495.1:p.Thr152=
XM_017021885.1:c.182C= XP_016877374.1:p.Thr61=
XM_017021886.1:c.182C= XP_016877375.1:p.Thr61=
XM_017021887.1:c.272C= XP_016877376.1:p.Thr91=
XM_017021888.1:c.272C= XP_016877377.1:p.Thr91=
XM_017021889.2:c.272C= XP_016877378.1:p.Thr91=