Canonical Allele Identifier: CA287177951

Gene: CHRNE

Linked Data

• dbSNP Id: rs901439734
• gnomAD v4: 17-4898143-G-A
• MyVariant Identifiers: chr17:g.4801438G>A (hg19) ; chr17:g.4898143G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898143G>A , CM000679.2:g.4898143G>A	GRCh38
NC_000017.10:g.4801438G>A , CM000679.1:g.4801438G>A	GRCh37
NC_000017.9:g.4742217G>A	NCBI36
NG_008029.2:g.9933C>T
NG_028005.1:g.69804G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*593C>T MANE Select	ENSP00000497829.1:n.*593C>T
ENST00000649830.1:c.*711C>T	ENSP00000496907.1:n.*711C>T
ENST00000652550.1:n.1801C>T
ENST00000293780.4:c.*593C>T	ENSP00000293780.4:n.*593C>T
ENST00000572438.1:n.1761C>T
NM_000080.3:c.*593C>T	NP_000071.1:n.*593C>T
NM_000080.4:c.*593C>T MANE Select	NP_000071.1:n.*593C>T
XM_017024115.1:c.*593C>T	XP_016879604.1:n.*593C>T