Canonical Allele Identifier: CA397300825

Gene: CHRNE C17orf107

Linked Data

• dbSNP Id: rs1969877874
• gnomAD v3: 17-4899487-A-G
• gnomAD v4: 17-4899487-A-G
• MyVariant Identifiers: chr17:g.4802782A>G (hg19) ; chr17:g.4899487A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4899487A>G , CM000679.2:g.4899487A>G	GRCh38
NC_000017.10:g.4802782A>G , CM000679.1:g.4802782A>G	GRCh37
NC_000017.9:g.4743561A>G	NCBI36
NG_008029.2:g.8589T>C
NG_028005.1:g.71148A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1013T>C (CHRNE) MANE Select	ENSP00000497829.1:p.Met338Thr
ENST00000649830.1:c.80T>C (CHRNE)	ENSP00000496907.1:p.Met27Thr
ENST00000652550.1:n.743T>C (CHRNE)
ENST00000293780.4:c.1013T>C (CHRNE)	ENSP00000293780.4:p.Met338Thr
ENST00000521575.1:c.-276A>G (C17orf107)	ENSP00000429241.1:n.-276A>G
ENST00000572438.1:n.699T>C (CHRNE)
NM_000080.3:c.1013T>C (CHRNE)	NP_000071.1:p.Met338Thr
XM_011523612.1:c.-276A>G (C17orf107)	XP_011521914.1:n.-276A>G
NM_000080.4:c.1013T>C (CHRNE) MANE Select	NP_000071.1:p.Met338Thr
XM_017024115.1:c.977T>C (CHRNE)	XP_016879604.1:p.Met326Thr
XR_001752421.1:n.1743T>C (CHRNE)