Canonical Allele Identifier: CA397297292
Gene: CHRNE HGNC NCBI

Linked Data

MyVariant Identifiers: chr17:g.4802062T>C (hg19) chr17:g.4898767T>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898767T>C , CM000679.2:g.4898767T>C GRCh38
NC_000017.10:g.4802062T>C , CM000679.1:g.4802062T>C GRCh37
NC_000017.9:g.4742841T>C NCBI36
NG_008029.2:g.9309A>G
NG_028005.1:g.70428T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1451A>G MANE Select ENSP00000497829.1:p.Asp484Gly
ENST00000649830.1:c.*87A>G ENSP00000496907.1:n.*87A>G
ENST00000652550.1:n.1177A>G
ENST00000293780.4:c.1451A>G ENSP00000293780.4:p.Asp484Gly
ENST00000572438.1:n.1137A>G
NM_000080.3:c.1451A>G NP_000071.1:p.Asp484Gly
NM_000080.4:c.1451A>G MANE Select NP_000071.1:p.Asp484Gly
XM_017024115.1:c.1415A>G XP_016879604.1:p.Asp472Gly
Search 100 bp 5'
Search 100 bp 3'