Canonical Allele Identifier: CA397297244

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802054A>G (hg19) ; chr17:g.4898759A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898759A>G , CM000679.2:g.4898759A>G	GRCh38
NC_000017.10:g.4802054A>G , CM000679.1:g.4802054A>G	GRCh37
NC_000017.9:g.4742833A>G	NCBI36
NG_008029.2:g.9317T>C
NG_028005.1:g.70420A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1459T>C MANE Select	ENSP00000497829.1:p.Tyr487His
ENST00000649830.1:c.*95T>C	ENSP00000496907.1:n.*95T>C
ENST00000652550.1:n.1185T>C
ENST00000293780.4:c.1459T>C	ENSP00000293780.4:p.Tyr487His
ENST00000572438.1:n.1145T>C
NM_000080.3:c.1459T>C	NP_000071.1:p.Tyr487His
NM_000080.4:c.1459T>C MANE Select	NP_000071.1:p.Tyr487His
XM_017024115.1:c.1423T>C	XP_016879604.1:p.Tyr475His