Canonical Allele Identifier: CA980970022

Gene: CHRNE

Linked Data

• dbSNP Id: rs1969809742
• gnomAD v3: 17-4898638-AGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGC-A
• gnomAD v4: 17-4898638-AGCAGGGGGAAGGGATCATAATGCCGTGGTGGCGGCAGCCTACTTTTTCAAAATCAATTTCCTACTGGAGATGGGTGGGAAATTGAAGTCGGTGCGAGCTAAGGCTGGATACACGGCGC-A

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898640_4898757del , CM000679.2:g.4898640_4898757del	GRCh38
NC_000017.10:g.4801935_4802052del , CM000679.1:g.4801935_4802052del	GRCh37
NC_000017.9:g.4742714_4742831del	NCBI36
NG_008029.2:g.9320_9437del
NG_028005.1:g.70301_70418del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.1462_*97del MANE Select	ENSP00000497829.1:n.[c.1462_*97del;Ala488Ter]
ENST00000649830.1:c.*98_*215del	ENSP00000496907.1:n.*98_*215del
ENST00000652550.1:n.1188_1305del
ENST00000293780.4:c.1462_*97del	ENSP00000293780.4:n.[c.1462_*97del;Ala488Ter]
ENST00000572438.1:n.1148_1265del
NM_000080.3:c.1462_*97del	NP_000071.1:n.[c.1462_*97del;Ala488Ter]
NM_000080.4:c.1462_*97del MANE Select	NP_000071.1:n.[c.1462_*97del;Ala488Ter]
XM_017024115.1:c.1426_*97del	XP_016879604.1:n.[c.1426_*97del;Ala476Ter]