Canonical Allele Identifier: CA772687810

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1219341641
• gnomAD v3: 17-4902181-G-C
• gnomAD v4: 17-4902181-G-C
• MyVariant Identifiers: chr17:g.4805476G>C (hg19) ; chr17:g.4902181G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902181G>C , CM000679.2:g.4902181G>C	GRCh38
NC_000017.10:g.4805476G>C , CM000679.1:g.4805476G>C	GRCh37
NC_000017.9:g.4746255G>C	NCBI36
NG_008029.2:g.5895C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1648G>C (C17orf107) MANE Select	ENSP00000370770.3:n.*1648G>C
ENST00000649488.2:c.344+36C>G (CHRNE) MANE Select	ENSP00000497829.1:n.344+36C>G
ENST00000649830.1:c.-590+36C>G (CHRNE)	ENSP00000496907.1:n.-590+36C>G
ENST00000293780.4:c.344+36C>G (CHRNE)	ENSP00000293780.4:n.344+36C>G
ENST00000381365.3:c.*1648G>C (C17orf107)	ENSP00000370770.3:n.*1648G>C
ENST00000575637.1:n.165+36C>G (CHRNE)
NM_000080.3:c.344+36C>G (CHRNE)	NP_000071.1:n.344+36C>G
NM_001145536.1:c.*1648G>C (C17orf107)	NP_001139008.1:n.*1648G>C
XM_011523612.1:c.546+1675G>C (C17orf107)	XP_011521914.1:n.546+1675G>C
XM_011523631.1:c.344+36C>G (CHRNE)	XP_011521933.1:n.344+36C>G
NM_000080.4:c.344+36C>G (CHRNE) MANE Select	NP_000071.1:n.344+36C>G
XM_017024115.1:c.308+36C>G (CHRNE)	XP_016879604.1:n.308+36C>G
XR_001752421.1:n.1189+36C>G (CHRNE)
NM_001145536.2:c.*1648G>C (C17orf107) MANE Select	NP_001139008.1:n.*1648G>C