Canonical Allele Identifier: CA397306330

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs1970009171
• gnomAD v4: 17-4902061-T-C
• MyVariant Identifiers: chr17:g.4805356T>C (hg19) ; chr17:g.4902061T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4902061T>C , CM000679.2:g.4902061T>C	GRCh38
NC_000017.10:g.4805356T>C , CM000679.1:g.4805356T>C	GRCh37
NC_000017.9:g.4746135T>C	NCBI36
NG_008029.2:g.6015A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.*1528T>C (C17orf107) MANE Select	ENSP00000370770.3:n.*1528T>C
ENST00000649488.2:c.371A>G (CHRNE) MANE Select	ENSP00000497829.1:p.Tyr124Cys
ENST00000649830.1:c.-563A>G (CHRNE)	ENSP00000496907.1:n.-563A>G
ENST00000293780.4:c.371A>G (CHRNE)	ENSP00000293780.4:p.Tyr124Cys
ENST00000381365.3:c.*1528T>C (C17orf107)	ENSP00000370770.3:n.*1528T>C
ENST00000575637.1:n.192A>G (CHRNE)
NM_000080.3:c.371A>G (CHRNE)	NP_000071.1:p.Tyr124Cys
NM_001145536.1:c.*1528T>C (C17orf107)	NP_001139008.1:n.*1528T>C
XM_011523612.1:c.546+1555T>C (C17orf107)	XP_011521914.1:n.546+1555T>C
XM_011523631.1:c.371A>G (CHRNE)	XP_011521933.1:p.Tyr124Cys
NM_000080.4:c.371A>G (CHRNE) MANE Select	NP_000071.1:p.Tyr124Cys
XM_017024115.1:c.335A>G (CHRNE)	XP_016879604.1:p.Tyr112Cys
XR_001752421.1:n.1216A>G (CHRNE)
NM_001145536.2:c.*1528T>C (C17orf107) MANE Select	NP_001139008.1:n.*1528T>C