Canonical Allele Identifier: CA980969719

Gene: CHRNE

Linked Data

• dbSNP Id: rs1969773912
• gnomAD v3: 17-4898113-A-C
• gnomAD v4: 17-4898113-A-C

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898113A>C , CM000679.2:g.4898113A>C	GRCh38
NC_000017.10:g.4801408A>C , CM000679.1:g.4801408A>C	GRCh37
NC_000017.9:g.4742187A>C	NCBI36
NG_008029.2:g.9963T>G
NG_028005.1:g.69774A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*623T>G MANE Select	ENSP00000497829.1:n.*623T>G
ENST00000649830.1:c.*741T>G	ENSP00000496907.1:n.*741T>G
ENST00000652550.1:n.1831T>G
ENST00000293780.4:c.*623T>G	ENSP00000293780.4:n.*623T>G
ENST00000572438.1:n.1791T>G
NM_000080.3:c.*623T>G	NP_000071.1:n.*623T>G
NM_000080.4:c.*623T>G MANE Select	NP_000071.1:n.*623T>G
XM_017024115.1:c.*623T>G	XP_016879604.1:n.*623T>G