Canonical Allele Identifier: CA8313809
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs749950366
ExAC: 17:4802048 G / T
gnomAD v2: 17-4802048-G-T
gnomAD v4: 17-4898753-G-T
MyVariant Identifiers: chr17:g.4802048G>T (hg19) chr17:g.4898753G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898753G>T , CM000679.2:g.4898753G>T GRCh38
NC_000017.10:g.4802048G>T , CM000679.1:g.4802048G>T GRCh37
NC_000017.9:g.4742827G>T NCBI36
NG_008029.2:g.9323C>A
NG_028005.1:g.70414G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1465C>A MANE Select ENSP00000497829.1:p.Pro489Thr
ENST00000649830.1:c.*101C>A ENSP00000496907.1:n.*101C>A
ENST00000652550.1:n.1191C>A
ENST00000293780.4:c.1465C>A ENSP00000293780.4:p.Pro489Thr
ENST00000572438.1:n.1151C>A
NM_000080.3:c.1465C>A NP_000071.1:p.Pro489Thr
NM_000080.4:c.1465C>A MANE Select NP_000071.1:p.Pro489Thr
XM_017024115.1:c.1429C>A XP_016879604.1:p.Pro477Thr
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