Canonical Allele Identifier: CA397297455

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802091G>T (hg19) ; chr17:g.4898796G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898796G>T , CM000679.2:g.4898796G>T	GRCh38
NC_000017.10:g.4802091G>T , CM000679.1:g.4802091G>T	GRCh37
NC_000017.9:g.4742870G>T	NCBI36
NG_008029.2:g.9280C>A
NG_028005.1:g.70457G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1422C>A MANE Select	ENSP00000497829.1:p.Phe474Leu
ENST00000649830.1:c.*58C>A	ENSP00000496907.1:n.*58C>A
ENST00000652550.1:n.1148C>A
ENST00000293780.4:c.1422C>A	ENSP00000293780.4:p.Phe474Leu
ENST00000572438.1:n.1108C>A
NM_000080.3:c.1422C>A	NP_000071.1:p.Phe474Leu
NM_000080.4:c.1422C>A MANE Select	NP_000071.1:p.Phe474Leu
XM_017024115.1:c.1386C>A	XP_016879604.1:p.Phe462Leu