Canonical Allele Identifier: CA409632426
Community Standard Title: NM_000744.7(CHRNA4):c.1670A>C (p.His557Pro)
Gene: CHRNA4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000020.11:g.63349741T>G , CM000682.2:g.63349741T>G GRCh38
NC_000020.10:g.61981093T>G , CM000682.1:g.61981093T>G GRCh37
NC_000020.9:g.61451537T>G NCBI36
NG_011931.1:g.16603A>C

Transcript Alleles

HGVS Amino-acid Change
NM_000744.7:c.1670A>C MANE Select NP_000735.1:p.His557Pro
ENST00000370263.9:c.1670A>C MANE Select ENSP00000359285.4:p.His557Pro
NM_000744.6:c.1670A>C NP_000735.1:p.His557Pro
NM_001256573.1:c.1142A>C NP_001243502.1:p.His381Pro
NM_001256573.2:c.1142A>C NP_001243502.1:p.His381Pro
NR_046317.1:n.1926A>C
NR_046317.2:n.1879A>C
ENST00000370263.8:c.1670A>C ENSP00000359285.4:p.His557Pro
ENST00000463705.5:n.2318A>C
ENST00000467563.3:n.1740A>C
ENST00000498043.6:c.1694A>C
ENST00000615287.4:c.1457A>C ENSP00000483388.1:p.His486Pro
ENST00000627000.1:c.*1359A>C ENSP00000486914.1:n.*1359A>C
ENST00000630240.1:n.1391A>C
XM_011528524.1:c.1457A>C XP_011526826.1:p.His486Pro
XM_017027625.2:c.1142A>C XP_016883114.1:p.His381Pro
XM_024451822.1:c.1142A>C XP_024307590.1:p.His381Pro