Canonical Allele Identifier: CA397297445

Gene: CHRNE

Linked Data

• gnomAD v4: 17-4898795-G-A
• MyVariant Identifiers: chr17:g.4802090G>A (hg19) ; chr17:g.4898795G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898795G>A , CM000679.2:g.4898795G>A	GRCh38
NC_000017.10:g.4802090G>A , CM000679.1:g.4802090G>A	GRCh37
NC_000017.9:g.4742869G>A	NCBI36
NG_008029.2:g.9281C>T
NG_028005.1:g.70456G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1423C>T MANE Select	ENSP00000497829.1:p.Leu475Phe
ENST00000649830.1:c.*59C>T	ENSP00000496907.1:n.*59C>T
ENST00000652550.1:n.1149C>T
ENST00000293780.4:c.1423C>T	ENSP00000293780.4:p.Leu475Phe
ENST00000572438.1:n.1109C>T
NM_000080.3:c.1423C>T	NP_000071.1:p.Leu475Phe
NM_000080.4:c.1423C>T MANE Select	NP_000071.1:p.Leu475Phe
XM_017024115.1:c.1387C>T	XP_016879604.1:p.Leu463Phe