Canonical Allele Identifier: CA8314821

Linked Data

ClinVar Variation Id: 2515117
ClinVar RCV Id: RCV003270013
dbSNP Id: rs534164809
gnomAD v2: 17-4836611-G-A
gnomAD v3: 17-4933316-G-A
gnomAD v4: 17-4933316-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.4933316G>A , CM000679.2:g.4933316G>A GRCh38
NC_000017.10:g.4836611G>A , CM000679.1:g.4836611G>A GRCh37
NC_000017.9:g.4777391G>A NCBI36
NG_008767.2:g.6022G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000329125.6:c.712G>A (GP1BA) MANE Select ENSP00000329380.5:p.Asp238Asn
ENST00000649830.1:c.-888+1026C>T (CHRNE) ENSP00000496907.1:n.-888+1026C>T
ENST00000329125.5:c.712G>A (GP1BA) ENSP00000329380.5:p.Asp238Asn
ENST00000611961.1:c.712G>A (GP1BA) ENSP00000484439.1:p.Asp238Asn
NM_000173.6:c.712G>A (GP1BA) NP_000164.5:p.Asp238Asn
NM_000173.7:c.712G>A (GP1BA) MANE Select NP_000164.5:p.Asp238Asn