Canonical Allele Identifier: CA1974454
Gene: CHRNA1 HGNC NCBI

Linked Data

ClinVar Variation Id: 332445
ClinVar RCV Id: RCV000407750 RCV000338507 RCV001705502
dbSNP Id: rs67309103
ExAC: 2:175614908 CAA / C
gnomAD v2: 2-175614908-CAA-C
gnomAD v3: 2-174750180-CAA-C
gnomAD v4: 2-174750180-CAA-C
MyVariant Identifiers: chr2:g.175614912_175614913del (hg19) chr2:g.175614911_175614912del (hg19) chr2:g.175614909_175614910del (hg19) chr2:g.174750184_174750185del (hg38) chr2:g.174750183_174750184del (hg38) chr2:g.174750181_174750182del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.174750196_174750197del , CM000664.2:g.174750196_174750197del GRCh38
NC_000002.11:g.175614924_175614925del , CM000664.1:g.175614924_175614925del GRCh37
NC_000002.10:g.175323170_175323171del NCBI36
NG_008172.1:g.19291_19292del

Transcript Alleles

HGVS Amino-acid Change
ENST00000636168.2:c.290-13_290-12del ENSP00000490338.2:n.290-13_290-12del
ENST00000672640.1:c.290-13_290-12del ENSP00000500507.1:n.290-13_290-12del
ENST00000261007.9:c.854-13_854-12del ENSP00000261007.5:n.854-13_854-12del
ENST00000348749.9:c.779-13_779-12del MANE Select ENSP00000261008.5:n.779-13_779-12del
ENST00000409219.5:c.779-13_779-12del ENSP00000386611.1:n.779-13_779-12del
ENST00000409542.5:c.533-13_533-12del ENSP00000387026.1:n.533-13_533-12del
ENST00000435083.5:c.*423-13_*423-12del ENSP00000395805.1:n.*423-13_*423-12del
NM_000079.3:c.779-13_779-12del NP_000070.1:n.779-13_779-12del
NM_001039523.2:c.854-13_854-12del NP_001034612.1:n.854-13_854-12del
XM_017003256.1:c.875-13_875-12del XP_016858745.1:n.875-13_875-12del
XM_017003257.1:c.800-13_800-12del XP_016858746.1:n.800-13_800-12del
NM_000079.4:c.779-13_779-12del MANE Select NP_000070.1:n.779-13_779-12del
NM_001039523.3:c.854-13_854-12del NP_001034612.1:n.854-13_854-12del
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