Canonical Allele Identifier: CA624619640
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1159088087
gnomAD v2: 17-4801407-G-A
gnomAD v3: 17-4898112-G-A
gnomAD v4: 17-4898112-G-A
MyVariant Identifiers: chr17:g.4801407G>A (hg19) chr17:g.4898112G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898112G>A , CM000679.2:g.4898112G>A GRCh38
NC_000017.10:g.4801407G>A , CM000679.1:g.4801407G>A GRCh37
NC_000017.9:g.4742186G>A NCBI36
NG_008029.2:g.9964C>T
NG_028005.1:g.69773G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.*624C>T MANE Select ENSP00000497829.1:n.*624C>T
ENST00000649830.1:c.*742C>T ENSP00000496907.1:n.*742C>T
ENST00000652550.1:n.1832C>T
ENST00000293780.4:c.*624C>T ENSP00000293780.4:n.*624C>T
ENST00000572438.1:n.1792C>T
NM_000080.3:c.*624C>T NP_000071.1:n.*624C>T
NM_000080.4:c.*624C>T MANE Select NP_000071.1:n.*624C>T
XM_017024115.1:c.*624C>T XP_016879604.1:n.*624C>T
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