Canonical Allele Identifier: CA12292926
Gene: NFKBIL1 HGNC NCBI
ATP6V1G2 HGNC NCBI
COSMIC:
COSN19631451 (not active)
MyVariant.info:
GRCh38 chr6:g.31548022G>A
GRCh37 chr6:g.31515799G>A
gnomAD v2:
6:31515799 G / A
gnomAD v3:
6:31548022 G / A
gnomAD v4:
chr6-31548022-G-A
Joint Max Group AF 0.4981208 (AFR)
Genomes Max Group AF 0.49619546 (AFR)
Exomes Max Group AF 0.49646718 (AFR)
dbSNP:
2071591
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Genomic Alleles

HGVS Genome Assembly
NC_000006.12:g.31548022G>A , CM000668.2:g.31548022G>A GRCh38
NC_000006.11:g.31515799G>A , CM000668.1:g.31515799G>A GRCh37
NC_000006.10:g.31623778G>A NCBI36
NG_012344.1:g.6172G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000376148.9:c.58-141G>A (NFKBIL1) MANE Select ENSP00000365318.4:n.58-141G>A
ENST00000376145.8:c.58-141G>A (NFKBIL1) ENSP00000365315.4:n.58-141G>A
ENST00000376146.8:c.-12-141G>A (NFKBIL1) ENSP00000365316.4:n.-12-141G>A
ENST00000376148.8:c.58-141G>A (NFKBIL1) ENSP00000365318.4:n.58-141G>A
ENST00000415099.2:c.202+204C>T (ATP6V1G2) ENSP00000390148.2:n.202+204C>T
ENST00000473655.1:n.92-141G>A (NFKBIL1)
ENST00000496233.1:c.58-141G>A (NFKBIL1) ENSP00000437148.1:n.58-141G>A
NM_001144961.1:c.58-141G>A (NFKBIL1) NP_001138433.1:n.58-141G>A
NM_001144962.1:c.-12-141G>A (NFKBIL1) NP_001138434.1:n.-12-141G>A
NM_001144963.1:c.-12-141G>A (NFKBIL1) NP_001138435.1:n.-12-141G>A
NM_005007.3:c.58-141G>A (NFKBIL1) NP_004998.3:n.58-141G>A
NM_005007.4:c.58-141G>A (NFKBIL1) MANE Select NP_004998.3:n.58-141G>A
NM_001144961.2:c.58-141G>A (NFKBIL1) NP_001138433.1:n.58-141G>A
NM_001144962.2:c.-12-141G>A (NFKBIL1) NP_001138434.1:n.-12-141G>A
NM_001144963.2:c.-12-141G>A (NFKBIL1) NP_001138435.1:n.-12-141G>A
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