Canonical Allele Identifier: CA397297303

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802063C>T (hg19) ; chr17:g.4898768C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898768C>T , CM000679.2:g.4898768C>T	GRCh38
NC_000017.10:g.4802063C>T , CM000679.1:g.4802063C>T	GRCh37
NC_000017.9:g.4742842C>T	NCBI36
NG_008029.2:g.9308G>A
NG_028005.1:g.70429C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1450G>A MANE Select	ENSP00000497829.1:p.Asp484Asn
ENST00000649830.1:c.*86G>A	ENSP00000496907.1:n.*86G>A
ENST00000652550.1:n.1176G>A
ENST00000293780.4:c.1450G>A	ENSP00000293780.4:p.Asp484Asn
ENST00000572438.1:n.1136G>A
NM_000080.3:c.1450G>A	NP_000071.1:p.Asp484Asn
NM_000080.4:c.1450G>A MANE Select	NP_000071.1:p.Asp484Asn
XM_017024115.1:c.1414G>A	XP_016879604.1:p.Asp472Asn