Canonical Allele Identifier: CA772622039

Gene: CHRNE

Linked Data

• dbSNP Id: rs1189753686
• gnomAD v3: 17-4898140-A-G
• gnomAD v4: 17-4898140-A-G
• MyVariant Identifiers: chr17:g.4801435A>G (hg19) ; chr17:g.4898140A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898140A>G , CM000679.2:g.4898140A>G	GRCh38
NC_000017.10:g.4801435A>G , CM000679.1:g.4801435A>G	GRCh37
NC_000017.9:g.4742214A>G	NCBI36
NG_008029.2:g.9936T>C
NG_028005.1:g.69801A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*596T>C MANE Select	ENSP00000497829.1:n.*596T>C
ENST00000649830.1:c.*714T>C	ENSP00000496907.1:n.*714T>C
ENST00000652550.1:n.1804T>C
ENST00000293780.4:c.*596T>C	ENSP00000293780.4:n.*596T>C
ENST00000572438.1:n.1764T>C
NM_000080.3:c.*596T>C	NP_000071.1:n.*596T>C
NM_000080.4:c.*596T>C MANE Select	NP_000071.1:n.*596T>C
XM_017024115.1:c.*596T>C	XP_016879604.1:n.*596T>C