Canonical Allele Identifier: CA2635577308

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898660-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898660G>A , CM000679.2:g.4898660G>A	GRCh38
NC_000017.10:g.4801955G>A , CM000679.1:g.4801955G>A	GRCh37
NC_000017.9:g.4742734G>A	NCBI36
NG_008029.2:g.9416C>T
NG_028005.1:g.70321G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*76C>T MANE Select	ENSP00000497829.1:n.*76C>T
ENST00000649830.1:c.*194C>T	ENSP00000496907.1:n.*194C>T
ENST00000652550.1:n.1284C>T
ENST00000293780.4:c.*76C>T	ENSP00000293780.4:n.*76C>T
ENST00000572438.1:n.1244C>T
NM_000080.3:c.*76C>T	NP_000071.1:n.*76C>T
NM_000080.4:c.*76C>T MANE Select	NP_000071.1:n.*76C>T
XM_017024115.1:c.*76C>T	XP_016879604.1:n.*76C>T