Canonical Allele Identifier: CA397301099

Gene: C17orf107 CHRNE

Linked Data

• gnomAD v4: 17-4899566-T-G
• MyVariant Identifiers: chr17:g.4802861T>G (hg19) ; chr17:g.4899566T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899566T>G , CM000679.2:g.4899566T>G	GRCh38
NC_000017.10:g.4802861T>G , CM000679.1:g.4802861T>G	GRCh37
NC_000017.9:g.4743640T>G	NCBI36
NG_008029.2:g.8510A>C
NG_028005.1:g.71227T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-197T>G (C17orf107) MANE Select	ENSP00000370770.3:n.-197T>G
ENST00000649488.2:c.934A>C (CHRNE) MANE Select	ENSP00000497829.1:p.Met312Leu
ENST00000649830.1:c.1A>C (CHRNE)	ENSP00000496907.1:p.Met1Leu
ENST00000652550.1:n.664A>C (CHRNE)
ENST00000293780.4:c.934A>C (CHRNE)	ENSP00000293780.4:p.Met312Leu
ENST00000381365.3:c.-197T>G (C17orf107)	ENSP00000370770.3:n.-197T>G
ENST00000521575.1:c.-197T>G (C17orf107)	ENSP00000429241.1:n.-197T>G
ENST00000572438.1:n.620A>C (CHRNE)
NM_000080.3:c.934A>C (CHRNE)	NP_000071.1:p.Met312Leu
XM_011523612.1:c.-197T>G (C17orf107)	XP_011521914.1:n.-197T>G
XM_011523631.1:c.819A>C (CHRNE)	XP_011521933.1:p.Ser273=
NM_000080.4:c.934A>C (CHRNE) MANE Select	NP_000071.1:p.Met312Leu
XM_017024115.1:c.898A>C (CHRNE)	XP_016879604.1:p.Met300Leu
XR_001752421.1:n.1664A>C (CHRNE)
NM_001145536.2:c.-197T>G (C17orf107) MANE Select	NP_001139008.1:n.-197T>G