Canonical Allele Identifier: CA772622025

Gene: CHRNE

Linked Data

• dbSNP Id: rs761563733
• gnomAD v3: 17-4898121-G-C
• gnomAD v4: 17-4898121-G-C
• MyVariant Identifiers: chr17:g.4801416G>C (hg19) ; chr17:g.4898121G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898121G>C , CM000679.2:g.4898121G>C	GRCh38
NC_000017.10:g.4801416G>C , CM000679.1:g.4801416G>C	GRCh37
NC_000017.9:g.4742195G>C	NCBI36
NG_008029.2:g.9955C>G
NG_028005.1:g.69782G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*615C>G MANE Select	ENSP00000497829.1:n.*615C>G
ENST00000649830.1:c.*733C>G	ENSP00000496907.1:n.*733C>G
ENST00000652550.1:n.1823C>G
ENST00000293780.4:c.*615C>G	ENSP00000293780.4:n.*615C>G
ENST00000572438.1:n.1783C>G
NM_000080.3:c.*615C>G	NP_000071.1:n.*615C>G
NM_000080.4:c.*615C>G MANE Select	NP_000071.1:n.*615C>G
XM_017024115.1:c.*615C>G	XP_016879604.1:n.*615C>G