Canonical Allele Identifier: CA2635576147

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898142-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898142G>A , CM000679.2:g.4898142G>A	GRCh38
NC_000017.10:g.4801437G>A , CM000679.1:g.4801437G>A	GRCh37
NC_000017.9:g.4742216G>A	NCBI36
NG_008029.2:g.9934C>T
NG_028005.1:g.69803G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*594C>T MANE Select	ENSP00000497829.1:n.*594C>T
ENST00000649830.1:c.*712C>T	ENSP00000496907.1:n.*712C>T
ENST00000652550.1:n.1802C>T
ENST00000293780.4:c.*594C>T	ENSP00000293780.4:n.*594C>T
ENST00000572438.1:n.1762C>T
NM_000080.3:c.*594C>T	NP_000071.1:n.*594C>T
NM_000080.4:c.*594C>T MANE Select	NP_000071.1:n.*594C>T
XM_017024115.1:c.*594C>T	XP_016879604.1:n.*594C>T