Canonical Allele Identifier: CA12292925
Gene: NFKBIL1 HGNC NCBI
ATP6V1G2 HGNC NCBI
MyVariant.info:
GRCh38 chr6:g.31547563T>A
GRCh37 chr6:g.31515340T>A
gnomAD v2:
6:31515340 T / A
gnomAD v3:
6:31547563 T / A
gnomAD v4:
chr6-31547563-T-A
Joint Max Group AF 0.48237461 (AFR)
Genomes Max Group AF 0.48136262 (AFR)
Exomes Max Group AF 0.47773679 (AFR)
ClinVar RCV:
RCV000008996
ClinVar Variation:
8475
dbSNP:
2071592
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31547563T>A , CM000668.2:g.31547563T>A GRCh38
NC_000006.11:g.31515340T>A , CM000668.1:g.31515340T>A GRCh37
NC_000006.10:g.31623319T>A NCBI36
NG_012344.1:g.5713T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376146.8:c.-13+590T>A (NFKBIL1) ENSP00000365316.4:n.-13+590T>A
ENST00000415099.2:c.202+663A>T (ATP6V1G2) ENSP00000390148.2:n.202+663A>T
NM_001144962.1:c.-13+590T>A (NFKBIL1) NP_001138434.1:n.-13+590T>A
NM_001144963.1:c.-13+590T>A (NFKBIL1) NP_001138435.1:n.-13+590T>A
NM_001144962.2:c.-13+590T>A (NFKBIL1) NP_001138434.1:n.-13+590T>A
NM_001144963.2:c.-13+590T>A (NFKBIL1) NP_001138435.1:n.-13+590T>A
Search 100 bp 5'
Search 100 bp 3'