Canonical Allele Identifier: CA397300999

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1280283697
• gnomAD v2: 17-4802833-T-C
• gnomAD v4: 17-4899538-T-C
• MyVariant Identifiers: chr17:g.4802833T>C (hg19) ; chr17:g.4899538T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899538T>C , CM000679.2:g.4899538T>C	GRCh38
NC_000017.10:g.4802833T>C , CM000679.1:g.4802833T>C	GRCh37
NC_000017.9:g.4743612T>C	NCBI36
NG_008029.2:g.8538A>G
NG_028005.1:g.71199T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-225T>C (C17orf107) MANE Select	ENSP00000370770.3:n.-225T>C
ENST00000649488.2:c.962A>G (CHRNE) MANE Select	ENSP00000497829.1:p.Asn321Ser
ENST00000649830.1:c.29A>G (CHRNE)	ENSP00000496907.1:p.Asn10Ser
ENST00000652550.1:n.692A>G (CHRNE)
ENST00000293780.4:c.962A>G (CHRNE)	ENSP00000293780.4:p.Asn321Ser
ENST00000381365.3:c.-225T>C (C17orf107)	ENSP00000370770.3:n.-225T>C
ENST00000521575.1:c.-225T>C (C17orf107)	ENSP00000429241.1:n.-225T>C
ENST00000572438.1:n.648A>G (CHRNE)
NM_000080.3:c.962A>G (CHRNE)	NP_000071.1:p.Asn321Ser
XM_011523612.1:c.-225T>C (C17orf107)	XP_011521914.1:n.-225T>C
XM_011523631.1:c.*1A>G (CHRNE)	XP_011521933.1:n.*1A>G
NM_000080.4:c.962A>G (CHRNE) MANE Select	NP_000071.1:p.Asn321Ser
XM_017024115.1:c.926A>G (CHRNE)	XP_016879604.1:p.Asn309Ser
XR_001752421.1:n.1692A>G (CHRNE)
NM_001145536.2:c.-225T>C (C17orf107) MANE Select	NP_001139008.1:n.-225T>C