Canonical Allele Identifier: CA397297439
Gene: CHRNE HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898794A>C , CM000679.2:g.4898794A>C GRCh38
NC_000017.10:g.4802089A>C , CM000679.1:g.4802089A>C GRCh37
NC_000017.9:g.4742868A>C NCBI36
NG_008029.2:g.9282T>G
NG_028005.1:g.70455A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1424T>G MANE Select ENSP00000497829.1:p.Leu475Arg
ENST00000649830.1:c.*60T>G ENSP00000496907.1:n.*60T>G
ENST00000652550.1:n.1150T>G
ENST00000293780.4:c.1424T>G ENSP00000293780.4:p.Leu475Arg
ENST00000572438.1:n.1110T>G
NM_000080.3:c.1424T>G NP_000071.1:p.Leu475Arg
NM_000080.4:c.1424T>G MANE Select NP_000071.1:p.Leu475Arg
XM_017024115.1:c.1388T>G XP_016879604.1:p.Leu463Arg