Canonical Allele Identifier: CA397300930

Gene: CHRNE C17orf107

Linked Data

• dbSNP Id: rs958190024
• gnomAD v2: 17-4802814-G-T
• gnomAD v4: 17-4899519-G-T
• MyVariant Identifiers: chr17:g.4802814G>T (hg19) ; chr17:g.4899519G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899519G>T , CM000679.2:g.4899519G>T	GRCh38
NC_000017.10:g.4802814G>T , CM000679.1:g.4802814G>T	GRCh37
NC_000017.9:g.4743593G>T	NCBI36
NG_008029.2:g.8557C>A
NG_028005.1:g.71180G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.981C>A (CHRNE) MANE Select	ENSP00000497829.1:p.Asn327Lys
ENST00000649830.1:c.48C>A (CHRNE)	ENSP00000496907.1:p.Asn16Lys
ENST00000652550.1:n.711C>A (CHRNE)
ENST00000293780.4:c.981C>A (CHRNE)	ENSP00000293780.4:p.Asn327Lys
ENST00000521575.1:c.-244G>T (C17orf107)	ENSP00000429241.1:n.-244G>T
ENST00000572438.1:n.667C>A (CHRNE)
NM_000080.3:c.981C>A (CHRNE)	NP_000071.1:p.Asn327Lys
XM_011523612.1:c.-244G>T (C17orf107)	XP_011521914.1:n.-244G>T
XM_011523631.1:c.*20C>A (CHRNE)	XP_011521933.1:n.*20C>A
NM_000080.4:c.981C>A (CHRNE) MANE Select	NP_000071.1:p.Asn327Lys
XM_017024115.1:c.945C>A (CHRNE)	XP_016879604.1:p.Asn315Lys
XR_001752421.1:n.1711C>A (CHRNE)