Canonical Allele Identifier: CA421231041
Gene: CHRNB2 HGNC NCBI

Linked Data

gnomAD v4: 1-154571777-G-A
COSMIC: COSM4672284
MyVariant Identifiers: chr1:g.154544253G>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.154571777G>A , CM000663.2:g.154571777G>A GRCh38
NC_000001.10:g.154544253G>A , CM000663.1:g.154544253G>A GRCh37
NC_000001.9:g.152810877G>A NCBI36
NG_008027.1:g.8997G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000368476.4:c.954G>A MANE Select ENSP00000357461.3:p.Val318=
ENST00000636034.1:c.954G>A ENSP00000489703.1:p.Val318=
ENST00000637900.1:c.960G>A ENSP00000490474.1:p.Val320=
ENST00000368476.3:c.954G>A ENSP00000357461.3:p.Val318=
NM_000748.2:c.954G>A NP_000739.1:p.Val318=
XM_017000180.2:c.444G>A XP_016855669.1:p.Val148=
XR_001736952.2:n.1206G>A
NM_000748.3:c.954G>A MANE Select NP_000739.1:p.Val318=
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