Canonical Allele Identifier: CA397297334

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802069C>G (hg19) ; chr17:g.4898774C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898774C>G , CM000679.2:g.4898774C>G	GRCh38
NC_000017.10:g.4802069C>G , CM000679.1:g.4802069C>G	GRCh37
NC_000017.9:g.4742848C>G	NCBI36
NG_008029.2:g.9302G>C
NG_028005.1:g.70435C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1444G>C MANE Select	ENSP00000497829.1:p.Val482Leu
ENST00000649830.1:c.*80G>C	ENSP00000496907.1:n.*80G>C
ENST00000652550.1:n.1170G>C
ENST00000293780.4:c.1444G>C	ENSP00000293780.4:p.Val482Leu
ENST00000572438.1:n.1130G>C
NM_000080.3:c.1444G>C	NP_000071.1:p.Val482Leu
NM_000080.4:c.1444G>C MANE Select	NP_000071.1:p.Val482Leu
XM_017024115.1:c.1408G>C	XP_016879604.1:p.Val470Leu