Canonical Allele Identifier: CA397297519

Gene: CHRNE

Linked Data

• MyVariant Identifiers: chr17:g.4802101C>G (hg19) ; chr17:g.4898806C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898806C>G , CM000679.2:g.4898806C>G	GRCh38
NC_000017.10:g.4802101C>G , CM000679.1:g.4802101C>G	GRCh37
NC_000017.9:g.4742880C>G	NCBI36
NG_008029.2:g.9270G>C
NG_028005.1:g.70467C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1412G>C MANE Select	ENSP00000497829.1:p.Ser471Thr
ENST00000649830.1:c.*48G>C	ENSP00000496907.1:n.*48G>C
ENST00000652550.1:n.1138G>C
ENST00000293780.4:c.1412G>C	ENSP00000293780.4:p.Ser471Thr
ENST00000572438.1:n.1098G>C
NM_000080.3:c.1412G>C	NP_000071.1:p.Ser471Thr
NM_000080.4:c.1412G>C MANE Select	NP_000071.1:p.Ser471Thr
XM_017024115.1:c.1376G>C	XP_016879604.1:p.Ser459Thr