Canonical Allele Identifier: CA397297238

Gene: CHRNE

Linked Data

• dbSNP Id: rs1324657150
• gnomAD v2: 17-4802053-T-C
• gnomAD v4: 17-4898758-T-C
• MyVariant Identifiers: chr17:g.4802053T>C (hg19) ; chr17:g.4898758T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898758T>C , CM000679.2:g.4898758T>C	GRCh38
NC_000017.10:g.4802053T>C , CM000679.1:g.4802053T>C	GRCh37
NC_000017.9:g.4742832T>C	NCBI36
NG_008029.2:g.9318A>G
NG_028005.1:g.70419T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1460A>G MANE Select	ENSP00000497829.1:p.Tyr487Cys
ENST00000649830.1:c.*96A>G	ENSP00000496907.1:n.*96A>G
ENST00000652550.1:n.1186A>G
ENST00000293780.4:c.1460A>G	ENSP00000293780.4:p.Tyr487Cys
ENST00000572438.1:n.1146A>G
NM_000080.3:c.1460A>G	NP_000071.1:p.Tyr487Cys
NM_000080.4:c.1460A>G MANE Select	NP_000071.1:p.Tyr487Cys
XM_017024115.1:c.1424A>G	XP_016879604.1:p.Tyr475Cys