Canonical Allele Identifier: CA397300884

Gene: CHRNE C17orf107

Linked Data

• gnomAD v4: 17-4899505-G-C
• MyVariant Identifiers: chr17:g.4802800G>C (hg19) ; chr17:g.4899505G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899505G>C , CM000679.2:g.4899505G>C	GRCh38
NC_000017.10:g.4802800G>C , CM000679.1:g.4802800G>C	GRCh37
NC_000017.9:g.4743579G>C	NCBI36
NG_008029.2:g.8571C>G
NG_028005.1:g.71166G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.995C>G (CHRNE) MANE Select	ENSP00000497829.1:p.Thr332Arg
ENST00000649830.1:c.62C>G (CHRNE)	ENSP00000496907.1:p.Thr21Arg
ENST00000652550.1:n.725C>G (CHRNE)
ENST00000293780.4:c.995C>G (CHRNE)	ENSP00000293780.4:p.Thr332Arg
ENST00000521575.1:c.-258G>C (C17orf107)	ENSP00000429241.1:n.-258G>C
ENST00000572438.1:n.681C>G (CHRNE)
NM_000080.3:c.995C>G (CHRNE)	NP_000071.1:p.Thr332Arg
XM_011523612.1:c.-258G>C (C17orf107)	XP_011521914.1:n.-258G>C
XM_011523631.1:c.*34C>G (CHRNE)	XP_011521933.1:n.*34C>G
NM_000080.4:c.995C>G (CHRNE) MANE Select	NP_000071.1:p.Thr332Arg
XM_017024115.1:c.959C>G (CHRNE)	XP_016879604.1:p.Thr320Arg
XR_001752421.1:n.1725C>G (CHRNE)