Canonical Allele Identifier: CA397297434
Gene: CHRNE HGNC NCBI

Linked Data

gnomAD v4: 17-4898792-C-G
MyVariant Identifiers: chr17:g.4802087C>G (hg19) chr17:g.4898792C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898792C>G , CM000679.2:g.4898792C>G GRCh38
NC_000017.10:g.4802087C>G , CM000679.1:g.4802087C>G GRCh37
NC_000017.9:g.4742866C>G NCBI36
NG_008029.2:g.9284G>C
NG_028005.1:g.70453C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1426G>C MANE Select ENSP00000497829.1:p.Gly476Arg
ENST00000649830.1:c.*62G>C ENSP00000496907.1:n.*62G>C
ENST00000652550.1:n.1152G>C
ENST00000293780.4:c.1426G>C ENSP00000293780.4:p.Gly476Arg
ENST00000572438.1:n.1112G>C
NM_000080.3:c.1426G>C NP_000071.1:p.Gly476Arg
NM_000080.4:c.1426G>C MANE Select NP_000071.1:p.Gly476Arg
XM_017024115.1:c.1390G>C XP_016879604.1:p.Gly464Arg
Search 100 bp 5'
Search 100 bp 3'