Canonical Allele Identifier: CA397297308

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802065G>A (hg19) ; chr17:g.4898770G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898770G>A , CM000679.2:g.4898770G>A	GRCh38
NC_000017.10:g.4802065G>A , CM000679.1:g.4802065G>A	GRCh37
NC_000017.9:g.4742844G>A	NCBI36
NG_008029.2:g.9306C>T
NG_028005.1:g.70431G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1448C>T MANE Select	ENSP00000497829.1:p.Pro483Leu
ENST00000649830.1:c.*84C>T	ENSP00000496907.1:n.*84C>T
ENST00000652550.1:n.1174C>T
ENST00000293780.4:c.1448C>T	ENSP00000293780.4:p.Pro483Leu
ENST00000572438.1:n.1134C>T
NM_000080.3:c.1448C>T	NP_000071.1:p.Pro483Leu
NM_000080.4:c.1448C>T MANE Select	NP_000071.1:p.Pro483Leu
XM_017024115.1:c.1412C>T	XP_016879604.1:p.Pro471Leu