Canonical Allele Identifier: CA2544471607

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898531-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898531T>C , CM000679.2:g.4898531T>C	GRCh38
NC_000017.10:g.4801826T>C , CM000679.1:g.4801826T>C	GRCh37
NC_000017.9:g.4742605T>C	NCBI36
NG_008029.2:g.9545A>G
NG_028005.1:g.70192T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*205A>G MANE Select	ENSP00000497829.1:n.*205A>G
ENST00000649830.1:c.*323A>G	ENSP00000496907.1:n.*323A>G
ENST00000652550.1:n.1413A>G
ENST00000293780.4:c.*205A>G	ENSP00000293780.4:n.*205A>G
ENST00000572438.1:n.1373A>G
NM_000080.3:c.*205A>G	NP_000071.1:n.*205A>G
NM_000080.4:c.*205A>G MANE Select	NP_000071.1:n.*205A>G
XM_017024115.1:c.*205A>G	XP_016879604.1:n.*205A>G