Canonical Allele Identifier: CA7684925

Gene: CHRNB4

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.78629647C>T , CM000677.2:g.78629647C>T	GRCh38
NC_000015.9:g.78921989C>T , CM000677.1:g.78921989C>T	GRCh37
NC_000015.8:g.76709044C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
NM_000750.5:c.658G>A MANE Select	NP_000741.1:p.Val220Met
ENST00000261751.8:c.658G>A MANE Select	ENSP00000261751.3:p.Val220Met
NM_000750.3:c.658G>A	NP_000741.1:p.Val220Met
NM_000750.4:c.658G>A	NP_000741.1:p.Val220Met
NM_001256567.1:c.359+1429G>A	NP_001243496.1:n.359+1429G>A
NM_001256567.2:c.359+1429G>A	NP_001243496.1:n.359+1429G>A
NM_001256567.3:c.359+1429G>A	NP_001243496.1:n.359+1429G>A
ENST00000261751.7:c.658G>A	ENSP00000261751.3:p.Val220Met
ENST00000412074.6:c.359+1429G>A	ENSP00000416386.2:n.359+1429G>A
ENST00000559849.5:c.*714G>A	ENSP00000457404.1:n.*714G>A
XM_011521181.1:c.841G>A	XP_011519483.1:p.Val281Met
XM_011521182.1:c.841G>A	XP_011519484.1:p.Val281Met
XM_011521183.1:c.841G>A	XP_011519485.1:p.Val281Met
XM_011521184.1:c.841G>A	XP_011519486.1:p.Val281Met
XM_011521185.1:c.841G>A	XP_011519487.1:p.Val281Met
XM_011521186.1:c.649G>A	XP_011519488.1:p.Val217Met
XM_011521186.2:c.649G>A	XP_011519488.1:p.Val217Met
XM_011521187.1:c.649G>A	XP_011519489.1:p.Val217Met
XM_011521187.2:c.649G>A	XP_011519489.1:p.Val217Met
XM_011521188.1:c.568G>A	XP_011519490.1:p.Val190Met
XM_011521189.1:c.493G>A	XP_011519491.1:p.Val165Met
XM_011521190.1:c.436G>A	XP_011519492.1:p.Val146Met
XM_011521190.2:c.436G>A	XP_011519492.1:p.Val146Met
XM_011521191.1:c.436G>A	XP_011519493.1:p.Val146Met
XM_011521191.2:c.436G>A	XP_011519493.1:p.Val146Met
XM_011521192.1:c.112G>A	XP_011519494.1:p.Val38Met
XM_011521192.2:c.112G>A	XP_011519494.1:p.Val38Met
XM_011521193.1:c.542+1429G>A	XP_011519495.1:n.542+1429G>A
XM_017021885.1:c.568G>A	XP_016877374.1:p.Val190Met
XM_017021886.1:c.568G>A	XP_016877375.1:p.Val190Met
XM_017021887.1:c.658G>A	XP_016877376.1:p.Val220Met
XM_017021888.1:c.658G>A	XP_016877377.1:p.Val220Met
XM_017021889.2:c.658G>A	XP_016877378.1:p.Val220Met