Canonical Allele Identifier: CA980969746

Gene: CHRNE

Linked Data

• dbSNP Id: rs1969777006
• gnomAD v3: 17-4898143-GTGGGCTGGGATCTGCAATGAGTGAGCCTCA-G
• gnomAD v4: 17-4898143-GTGGGCTGGGATCTGCAATGAGTGAGCCTCA-G

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.4898148_4898177del , CM000679.2:g.4898148_4898177del	GRCh38
NC_000017.10:g.4801443_4801472del , CM000679.1:g.4801443_4801472del	GRCh37
NC_000017.9:g.4742222_4742251del	NCBI36
NG_008029.2:g.9903_9932del
NG_028005.1:g.69809_69838del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000649488.2:c.*563_*592del MANE Select	ENSP00000497829.1:n.*563_*592del
ENST00000649830.1:c.*681_*710del	ENSP00000496907.1:n.*681_*710del
ENST00000652550.1:n.1771_1800del
ENST00000293780.4:c.*563_*592del	ENSP00000293780.4:n.*563_*592del
ENST00000572438.1:n.1731_1760del
NM_000080.3:c.*563_*592del	NP_000071.1:n.*563_*592del
NM_000080.4:c.*563_*592del MANE Select	NP_000071.1:n.*563_*592del
XM_017024115.1:c.*563_*592del	XP_016879604.1:n.*563_*592del