Canonical Allele Identifier: CA8314483

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs766595838
• ExAC: 17:4805377 T / C
• gnomAD v2: 17-4805377-T-C
• gnomAD v4: 17-4902082-T-C
• MyVariant Identifiers: chr17:g.4805377T>C (hg19) ; chr17:g.4902082T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902082T>C , CM000679.2:g.4902082T>C	GRCh38
NC_000017.10:g.4805377T>C , CM000679.1:g.4805377T>C	GRCh37
NC_000017.9:g.4746156T>C	NCBI36
NG_008029.2:g.5994A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1549T>C (C17orf107) MANE Select	ENSP00000370770.3:n.*1549T>C
ENST00000649488.2:c.350A>G (CHRNE) MANE Select	ENSP00000497829.1:p.Asp117Gly
ENST00000649830.1:c.-584A>G (CHRNE)	ENSP00000496907.1:n.-584A>G
ENST00000293780.4:c.350A>G (CHRNE)	ENSP00000293780.4:p.Asp117Gly
ENST00000381365.3:c.*1549T>C (C17orf107)	ENSP00000370770.3:n.*1549T>C
ENST00000575637.1:n.171A>G (CHRNE)
NM_000080.3:c.350A>G (CHRNE)	NP_000071.1:p.Asp117Gly
NM_001145536.1:c.*1549T>C (C17orf107)	NP_001139008.1:n.*1549T>C
XM_011523612.1:c.546+1576T>C (C17orf107)	XP_011521914.1:n.546+1576T>C
XM_011523631.1:c.350A>G (CHRNE)	XP_011521933.1:p.Asp117Gly
NM_000080.4:c.350A>G (CHRNE) MANE Select	NP_000071.1:p.Asp117Gly
XM_017024115.1:c.314A>G (CHRNE)	XP_016879604.1:p.Asp105Gly
XR_001752421.1:n.1195A>G (CHRNE)
NM_001145536.2:c.*1549T>C (C17orf107) MANE Select	NP_001139008.1:n.*1549T>C