Canonical Allele Identifier: CA497675811

Gene: CHRNE

Linked Data

• dbSNP Id: rs1373157218
• gnomAD v2: 17-4802076-G-A
• MyVariant Identifiers: chr17:g.4802076G>A (hg19) ; chr17:g.4898781G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898781G>A , CM000679.2:g.4898781G>A	GRCh38
NC_000017.10:g.4802076G>A , CM000679.1:g.4802076G>A	GRCh37
NC_000017.9:g.4742855G>A	NCBI36
NG_008029.2:g.9295C>T
NG_028005.1:g.70442G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1437C>T MANE Select	ENSP00000497829.1:p.Phe479=
ENST00000649830.1:c.*73C>T	ENSP00000496907.1:n.*73C>T
ENST00000652550.1:n.1163C>T
ENST00000293780.4:c.1437C>T	ENSP00000293780.4:p.Phe479=
ENST00000572438.1:n.1123C>T
NM_000080.3:c.1437C>T	NP_000071.1:p.Phe479=
NM_000080.4:c.1437C>T MANE Select	NP_000071.1:p.Phe479=
XM_017024115.1:c.1401C>T	XP_016879604.1:p.Phe467=