Canonical Allele Identifier: CA2635577070
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898508-T-G
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898508T>G , CM000679.2:g.4898508T>G GRCh38
NC_000017.10:g.4801803T>G , CM000679.1:g.4801803T>G GRCh37
NC_000017.9:g.4742582T>G NCBI36
NG_008029.2:g.9568A>C
NG_028005.1:g.70169T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*228A>C MANE Select ENSP00000497829.1:n.*228A>C
ENST00000649830.1:c.*346A>C ENSP00000496907.1:n.*346A>C
ENST00000652550.1:n.1436A>C
ENST00000293780.4:c.*228A>C ENSP00000293780.4:n.*228A>C
ENST00000572438.1:n.1396A>C
NM_000080.3:c.*228A>C NP_000071.1:n.*228A>C
NM_000080.4:c.*228A>C MANE Select NP_000071.1:n.*228A>C
XM_017024115.1:c.*228A>C XP_016879604.1:n.*228A>C
Search 100 bp 5'
Search 100 bp 3'