Canonical Allele Identifier: CA980969955

Gene: CHRNE

Linked Data

• dbSNP Id: rs1969805354
• gnomAD v3: 17-4898532-ATG-A
• gnomAD v4: 17-4898532-ATG-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898535_4898536del , CM000679.2:g.4898535_4898536del	GRCh38
NC_000017.10:g.4801830_4801831del , CM000679.1:g.4801830_4801831del	GRCh37
NC_000017.9:g.4742609_4742610del	NCBI36
NG_008029.2:g.9542_9543del
NG_028005.1:g.70196_70197del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*202_*203del MANE Select	ENSP00000497829.1:n.*202_*203del
ENST00000649830.1:c.*320_*321del	ENSP00000496907.1:n.*320_*321del
ENST00000652550.1:n.1410_1411del
ENST00000293780.4:c.*202_*203del	ENSP00000293780.4:n.*202_*203del
ENST00000572438.1:n.1370_1371del
NM_000080.3:c.*202_*203del	NP_000071.1:n.*202_*203del
NM_000080.4:c.*202_*203del MANE Select	NP_000071.1:n.*202_*203del
XM_017024115.1:c.*202_*203del	XP_016879604.1:n.*202_*203del