Canonical Allele Identifier: CA397297346
Gene: CHRNE HGNC NCBI

Linked Data

ClinVar Variation Id: 2159155
ClinVar RCV Id: RCV003072667
dbSNP Id: rs775550642
gnomAD v2: 17-4802072-G-C
MyVariant Identifiers: chr17:g.4802072G>C (hg19) chr17:g.4898777G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898777G>C , CM000679.2:g.4898777G>C GRCh38
NC_000017.10:g.4802072G>C , CM000679.1:g.4802072G>C GRCh37
NC_000017.9:g.4742851G>C NCBI36
NG_008029.2:g.9299C>G
NG_028005.1:g.70438G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1441C>G MANE Select ENSP00000497829.1:p.Arg481Gly
ENST00000649830.1:c.*77C>G ENSP00000496907.1:n.*77C>G
ENST00000652550.1:n.1167C>G
ENST00000293780.4:c.1441C>G ENSP00000293780.4:p.Arg481Gly
ENST00000572438.1:n.1127C>G
NM_000080.3:c.1441C>G NP_000071.1:p.Arg481Gly
NM_000080.4:c.1441C>G MANE Select NP_000071.1:p.Arg481Gly
XM_017024115.1:c.1405C>G XP_016879604.1:p.Arg469Gly
Search 100 bp 5'
Search 100 bp 3'