Canonical Allele Identifier: CA8314225

Gene: C17orf107 CHRNE

Linked Data

• dbSNP Id: rs151006465
• ExAC: 17:4804144 C / A
• gnomAD v2: 17-4804144-C-A
• gnomAD v3: 17-4900849-C-A
• gnomAD v4: 17-4900849-C-A
• MyVariant Identifiers: chr17:g.4804144C>A (hg19) ; chr17:g.4900849C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4900849C>A , CM000679.2:g.4900849C>A	GRCh38
NC_000017.10:g.4804144C>A , CM000679.1:g.4804144C>A	GRCh37
NC_000017.9:g.4744923C>A	NCBI36
NG_008029.2:g.7227G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000381365.4:c.*316C>A (C17orf107) MANE Select	ENSP00000370770.3:n.*316C>A
ENST00000649488.2:c.861G>T (CHRNE) MANE Select	ENSP00000497829.1:p.Leu287Phe
ENST00000649830.1:c.-73G>T (CHRNE)	ENSP00000496907.1:n.-73G>T
ENST00000293780.4:c.861G>T (CHRNE)	ENSP00000293780.4:p.Leu287Phe
ENST00000381365.3:c.*316C>A (C17orf107)	ENSP00000370770.3:n.*316C>A
ENST00000572438.1:n.547G>T (CHRNE)
NM_000080.3:c.861G>T (CHRNE)	NP_000071.1:p.Leu287Phe
NM_001145536.1:c.*316C>A (C17orf107)	NP_001139008.1:n.*316C>A
XM_011523612.1:c.546+343C>A (C17orf107)	XP_011521914.1:n.546+343C>A
XM_011523631.1:c.802+141G>T (CHRNE)	XP_011521933.1:n.802+141G>T
NM_000080.4:c.861G>T (CHRNE) MANE Select	NP_000071.1:p.Leu287Phe
XM_017024115.1:c.825G>T (CHRNE)	XP_016879604.1:p.Leu275Phe
XR_001752421.1:n.1647+141G>T (CHRNE)
NM_001145536.2:c.*316C>A (C17orf107) MANE Select	NP_001139008.1:n.*316C>A