Canonical Allele Identifier: CA15080822
Gene: NIBAN1 HGNC NCBI
COSMIC:
COSN6432032 (not active)
MyVariant.info:
GRCh38 chr1:g.184792231A>G
GRCh37 chr1:g.184761365A>G
gnomAD v2:
1:184761365 A / G
gnomAD v3:
1:184792231 A / G
gnomAD v4:
chr1-184792231-A-G
Joint Max Group AF 0.69154487 (AFR)
Genomes Max Group AF 0.69154026 (AFR)
Exomes Max Group AF 0.2044221 (AFR)
dbSNP:
682331
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.184792231A>G , CM000663.2:g.184792231A>G GRCh38
NC_000001.10:g.184761365A>G , CM000663.1:g.184761365A>G GRCh37
NC_000001.9:g.183027988A>G NCBI36
NG_051588.1:g.187356T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000367511.4:c.*2746T>C MANE Select ENSP00000356481.3:n.*2746T>C
ENST00000367511.3:c.*2746T>C ENSP00000356481.3:n.*2746T>C
ENST00000417056.5:c.261-1166T>C
NM_052966.3:c.*2746T>C NP_443198.1:n.*2746T>C
XM_011509140.1:c.*2746T>C XP_011507442.1:n.*2746T>C
XM_011509141.1:c.*2746T>C XP_011507443.1:n.*2746T>C
XM_011509140.3:c.*2746T>C XP_011507442.1:n.*2746T>C
XM_011509141.3:c.*2746T>C XP_011507443.1:n.*2746T>C
NM_052966.4:c.*2746T>C MANE Select NP_443198.1:n.*2746T>C
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