Canonical Allele Identifier: CA397301111

Gene: C17orf107 CHRNE

Linked Data

• gnomAD v4: 17-4899570-G-T
• MyVariant Identifiers: chr17:g.4802865G>T (hg19) ; chr17:g.4899570G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899570G>T , CM000679.2:g.4899570G>T	GRCh38
NC_000017.10:g.4802865G>T , CM000679.1:g.4802865G>T	GRCh37
NC_000017.9:g.4743644G>T	NCBI36
NG_008029.2:g.8506C>A
NG_028005.1:g.71231G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000381365.4:c.-193G>T (C17orf107) MANE Select	ENSP00000370770.3:n.-193G>T
ENST00000649488.2:c.930C>A (CHRNE) MANE Select	ENSP00000497829.1:p.Phe310Leu
ENST00000649830.1:c.-4C>A (CHRNE)	ENSP00000496907.1:n.-4C>A
ENST00000652550.1:n.660C>A (CHRNE)
ENST00000293780.4:c.930C>A (CHRNE)	ENSP00000293780.4:p.Phe310Leu
ENST00000381365.3:c.-193G>T (C17orf107)	ENSP00000370770.3:n.-193G>T
ENST00000521575.1:c.-193G>T (C17orf107)	ENSP00000429241.1:n.-193G>T
ENST00000572438.1:n.616C>A (CHRNE)
NM_000080.3:c.930C>A (CHRNE)	NP_000071.1:p.Phe310Leu
XM_011523612.1:c.-193G>T (C17orf107)	XP_011521914.1:n.-193G>T
XM_011523631.1:c.815C>A (CHRNE)	XP_011521933.1:p.Ser272Ter
NM_000080.4:c.930C>A (CHRNE) MANE Select	NP_000071.1:p.Phe310Leu
XM_017024115.1:c.894C>A (CHRNE)	XP_016879604.1:p.Phe298Leu
XR_001752421.1:n.1660C>A (CHRNE)
NM_001145536.2:c.-193G>T (C17orf107) MANE Select	NP_001139008.1:n.-193G>T