Canonical Allele Identifier: CA397297277

Gene: CHRNE

Linked Data

• dbSNP Id: rs1085307690
• gnomAD v4: 17-4898765-G-T
• MyVariant Identifiers: chr17:g.4802060G>T (hg19) ; chr17:g.4898765G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898765G>T , CM000679.2:g.4898765G>T	GRCh38
NC_000017.10:g.4802060G>T , CM000679.1:g.4802060G>T	GRCh37
NC_000017.9:g.4742839G>T	NCBI36
NG_008029.2:g.9311C>A
NG_028005.1:g.70426G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1453C>A MANE Select	ENSP00000497829.1:p.Leu485Ile
ENST00000649830.1:c.*89C>A	ENSP00000496907.1:n.*89C>A
ENST00000652550.1:n.1179C>A
ENST00000293780.4:c.1453C>A	ENSP00000293780.4:p.Leu485Ile
ENST00000572438.1:n.1139C>A
NM_000080.3:c.1453C>A	NP_000071.1:p.Leu485Ile
NM_000080.4:c.1453C>A MANE Select	NP_000071.1:p.Leu485Ile
XM_017024115.1:c.1417C>A	XP_016879604.1:p.Leu473Ile