Canonical Allele Identifier: CA397297495
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898803-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898803A>G , CM000679.2:g.4898803A>G GRCh38
NC_000017.10:g.4802098A>G , CM000679.1:g.4802098A>G GRCh37
NC_000017.9:g.4742877A>G NCBI36
NG_008029.2:g.9273T>C
NG_028005.1:g.70464A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1415T>C MANE Select ENSP00000497829.1:p.Leu472Pro
ENST00000649830.1:c.*51T>C ENSP00000496907.1:n.*51T>C
ENST00000652550.1:n.1141T>C
ENST00000293780.4:c.1415T>C ENSP00000293780.4:p.Leu472Pro
ENST00000572438.1:n.1101T>C
NM_000080.3:c.1415T>C NP_000071.1:p.Leu472Pro
NM_000080.4:c.1415T>C MANE Select NP_000071.1:p.Leu472Pro
XM_017024115.1:c.1379T>C XP_016879604.1:p.Leu460Pro