Canonical Allele Identifier: CA2576135494

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898642-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898642G>C , CM000679.2:g.4898642G>C	GRCh38
NC_000017.10:g.4801937G>C , CM000679.1:g.4801937G>C	GRCh37
NC_000017.9:g.4742716G>C	NCBI36
NG_008029.2:g.9434C>G
NG_028005.1:g.70303G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*94C>G MANE Select	ENSP00000497829.1:n.*94C>G
ENST00000649830.1:c.*212C>G	ENSP00000496907.1:n.*212C>G
ENST00000652550.1:n.1302C>G
ENST00000293780.4:c.*94C>G	ENSP00000293780.4:n.*94C>G
ENST00000572438.1:n.1262C>G
NM_000080.3:c.*94C>G	NP_000071.1:n.*94C>G
NM_000080.4:c.*94C>G MANE Select	NP_000071.1:n.*94C>G
XM_017024115.1:c.*94C>G	XP_016879604.1:n.*94C>G