Canonical Allele Identifier: CA393586206
Community Standard Title: NM_000750.5(CHRNB4):c.178C>T (p.Leu60Phe)
Gene: CHRNB4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000015.10:g.78635465G>A , CM000677.2:g.78635465G>A GRCh38
NC_000015.9:g.78927807G>A , CM000677.1:g.78927807G>A GRCh37
NC_000015.8:g.76714862G>A NCBI36

Transcript Alleles

HGVS Amino-acid Change
NM_000750.5:c.178C>T MANE Select NP_000741.1:p.Leu60Phe
ENST00000261751.8:c.178C>T MANE Select ENSP00000261751.3:p.Leu60Phe
NM_000750.3:c.178C>T NP_000741.1:p.Leu60Phe
NM_000750.4:c.178C>T NP_000741.1:p.Leu60Phe
NM_001256567.1:c.178C>T NP_001243496.1:p.Leu60Phe
NM_001256567.2:c.178C>T NP_001243496.1:p.Leu60Phe
NM_001256567.3:c.178C>T NP_001243496.1:p.Leu60Phe
ENST00000261751.7:c.178C>T ENSP00000261751.3:p.Leu60Phe
ENST00000412074.6:c.178C>T ENSP00000416386.2:p.Leu60Phe
ENST00000559849.5:c.169C>T ENSP00000457404.1:p.Leu57Phe
ENST00000560511.5:n.532C>T
XM_011521181.1:c.361C>T XP_011519483.1:p.Leu121Phe
XM_011521182.1:c.361C>T XP_011519484.1:p.Leu121Phe
XM_011521183.1:c.361C>T XP_011519485.1:p.Leu121Phe
XM_011521184.1:c.361C>T XP_011519486.1:p.Leu121Phe
XM_011521185.1:c.361C>T XP_011519487.1:p.Leu121Phe
XM_011521186.1:c.169C>T XP_011519488.1:p.Leu57Phe
XM_011521186.2:c.169C>T XP_011519488.1:p.Leu57Phe
XM_011521187.1:c.169C>T XP_011519489.1:p.Leu57Phe
XM_011521187.2:c.169C>T XP_011519489.1:p.Leu57Phe
XM_011521188.1:c.88C>T XP_011519490.1:p.Leu30Phe
XM_011521191.1:c.-18-4133C>T XP_011519493.1:n.-18-4133C>T
XM_011521191.2:c.-18-4133C>T XP_011519493.1:n.-18-4133C>T
XM_011521192.1:c.-517C>T XP_011519494.1:n.-517C>T
XM_011521192.2:c.-517C>T XP_011519494.1:n.-517C>T
XM_011521193.1:c.361C>T XP_011519495.1:p.Leu121Phe
XM_017021885.1:c.88C>T XP_016877374.1:p.Leu30Phe
XM_017021886.1:c.88C>T XP_016877375.1:p.Leu30Phe
XM_017021887.1:c.178C>T XP_016877376.1:p.Leu60Phe
XM_017021888.1:c.178C>T XP_016877377.1:p.Leu60Phe
XM_017021889.2:c.178C>T XP_016877378.1:p.Leu60Phe