Canonical Allele Identifier: CA2635577097
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898533-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898533T>G , CM000679.2:g.4898533T>G GRCh38
NC_000017.10:g.4801828T>G , CM000679.1:g.4801828T>G GRCh37
NC_000017.9:g.4742607T>G NCBI36
NG_008029.2:g.9543A>C
NG_028005.1:g.70194T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*203A>C MANE Select ENSP00000497829.1:n.*203A>C
ENST00000649830.1:c.*321A>C ENSP00000496907.1:n.*321A>C
ENST00000652550.1:n.1411A>C
ENST00000293780.4:c.*203A>C ENSP00000293780.4:n.*203A>C
ENST00000572438.1:n.1371A>C
NM_000080.3:c.*203A>C NP_000071.1:n.*203A>C
NM_000080.4:c.*203A>C MANE Select NP_000071.1:n.*203A>C
XM_017024115.1:c.*203A>C XP_016879604.1:n.*203A>C
Search 100 bp 5'
Search 100 bp 3'