Canonical Allele Identifier: CA397300716

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802667G>C (hg19) ; chr17:g.4899372G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899372G>C , CM000679.2:g.4899372G>C	GRCh38
NC_000017.10:g.4802667G>C , CM000679.1:g.4802667G>C	GRCh37
NC_000017.9:g.4743446G>C	NCBI36
NG_008029.2:g.8704C>G
NG_028005.1:g.71033G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000649488.2:c.1045C>G MANE Select	ENSP00000497829.1:p.Leu349Val
ENST00000649830.1:c.112C>G	ENSP00000496907.1:p.Leu38Val
ENST00000652550.1:n.775C>G
ENST00000293780.4:c.1045C>G	ENSP00000293780.4:p.Leu349Val
ENST00000572438.1:n.731C>G
NM_000080.3:c.1045C>G	NP_000071.1:p.Leu349Val
NM_000080.4:c.1045C>G MANE Select	NP_000071.1:p.Leu349Val
XM_017024115.1:c.1009C>G	XP_016879604.1:p.Leu337Val
XR_001752421.1:n.1775C>G