Canonical Allele Identifier: CA980970070

Gene: CHRNE

Linked Data

• dbSNP Id: rs2229200
• gnomAD v3: 17-4898693-A-C
• gnomAD v4: 17-4898693-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898693A>C , CM000679.2:g.4898693A>C	GRCh38
NC_000017.10:g.4801988A>C , CM000679.1:g.4801988A>C	GRCh37
NC_000017.9:g.4742767A>C	NCBI36
NG_008029.2:g.9383T>G
NG_028005.1:g.70354A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*43T>G MANE Select	ENSP00000497829.1:n.*43T>G
ENST00000649830.1:c.*161T>G	ENSP00000496907.1:n.*161T>G
ENST00000652550.1:n.1251T>G
ENST00000293780.4:c.*43T>G	ENSP00000293780.4:n.*43T>G
ENST00000572438.1:n.1211T>G
NM_000080.3:c.*43T>G	NP_000071.1:n.*43T>G
NM_000080.4:c.*43T>G MANE Select	NP_000071.1:n.*43T>G
XM_017024115.1:c.*43T>G	XP_016879604.1:n.*43T>G