Canonical Allele Identifier: CA2635576083
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898065-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898065A>G , CM000679.2:g.4898065A>G GRCh38
NC_000017.10:g.4801360A>G , CM000679.1:g.4801360A>G GRCh37
NC_000017.9:g.4742139A>G NCBI36
NG_008029.2:g.10011T>C
NG_028005.1:g.69726A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*671T>C MANE Select ENSP00000497829.1:n.*671T>C
ENST00000652550.1:n.1879T>C
ENST00000293780.4:c.*671T>C ENSP00000293780.4:n.*671T>C
ENST00000572438.1:n.1839T>C
NM_000080.3:c.*671T>C NP_000071.1:n.*671T>C
NM_000080.4:c.*671T>C MANE Select NP_000071.1:n.*671T>C
XM_017024115.1:c.*671T>C XP_016879604.1:n.*671T>C