Canonical Allele Identifier: CA397297448
Gene: CHRNE HGNC NCBI

Linked Data

dbSNP Id: rs1228103018
gnomAD v3: 17-4898795-G-C
gnomAD v4: 17-4898795-G-C
MyVariant Identifiers: chr17:g.4802090G>C (hg19) chr17:g.4898795G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4898795G>C , CM000679.2:g.4898795G>C GRCh38
NC_000017.10:g.4802090G>C , CM000679.1:g.4802090G>C GRCh37
NC_000017.9:g.4742869G>C NCBI36
NG_008029.2:g.9281C>G
NG_028005.1:g.70456G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000649488.2:c.1423C>G MANE Select ENSP00000497829.1:p.Leu475Val
ENST00000649830.1:c.*59C>G ENSP00000496907.1:n.*59C>G
ENST00000652550.1:n.1149C>G
ENST00000293780.4:c.1423C>G ENSP00000293780.4:p.Leu475Val
ENST00000572438.1:n.1109C>G
NM_000080.3:c.1423C>G NP_000071.1:p.Leu475Val
NM_000080.4:c.1423C>G MANE Select NP_000071.1:p.Leu475Val
XM_017024115.1:c.1387C>G XP_016879604.1:p.Leu463Val
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