Canonical Allele Identifier: CA397297183

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802042T>G (hg19) ; chr17:g.4898747T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898747T>G , CM000679.2:g.4898747T>G	GRCh38
NC_000017.10:g.4802042T>G , CM000679.1:g.4802042T>G	GRCh37
NC_000017.9:g.4742821T>G	NCBI36
NG_008029.2:g.9329A>C
NG_028005.1:g.70408T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1471A>C MANE Select	ENSP00000497829.1:p.Ile491Leu
ENST00000649830.1:c.*107A>C	ENSP00000496907.1:n.*107A>C
ENST00000652550.1:n.1197A>C
ENST00000293780.4:c.1471A>C	ENSP00000293780.4:p.Ile491Leu
ENST00000572438.1:n.1157A>C
NM_000080.3:c.1471A>C	NP_000071.1:p.Ile491Leu
NM_000080.4:c.1471A>C MANE Select	NP_000071.1:p.Ile491Leu
XM_017024115.1:c.1435A>C	XP_016879604.1:p.Ile479Leu