Canonical Allele Identifier: CA397300793

Gene: CHRNE C17orf107

Linked Data

• gnomAD v4: 17-4899476-G-T
• MyVariant Identifiers: chr17:g.4802771G>T (hg19) ; chr17:g.4899476G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899476G>T , CM000679.2:g.4899476G>T	GRCh38
NC_000017.10:g.4802771G>T , CM000679.1:g.4802771G>T	GRCh37
NC_000017.9:g.4743550G>T	NCBI36
NG_008029.2:g.8600C>A
NG_028005.1:g.71137G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1024C>A (CHRNE) MANE Select	ENSP00000497829.1:p.Leu342Met
ENST00000649830.1:c.91C>A (CHRNE)	ENSP00000496907.1:p.Leu31Met
ENST00000652550.1:n.754C>A (CHRNE)
ENST00000293780.4:c.1024C>A (CHRNE)	ENSP00000293780.4:p.Leu342Met
ENST00000521575.1:c.-287G>T (C17orf107)	ENSP00000429241.1:n.-287G>T
ENST00000572438.1:n.710C>A (CHRNE)
NM_000080.3:c.1024C>A (CHRNE)	NP_000071.1:p.Leu342Met
XM_011523612.1:c.-287G>T (C17orf107)	XP_011521914.1:n.-287G>T
NM_000080.4:c.1024C>A (CHRNE) MANE Select	NP_000071.1:p.Leu342Met
XM_017024115.1:c.988C>A (CHRNE)	XP_016879604.1:p.Leu330Met
XR_001752421.1:n.1754C>A (CHRNE)