Canonical Allele Identifier: CA11695916

Gene: NFKB1

Linked Data

• ClinVar Variation Id: 1265871
• ClinVar RCV Id: RCV001675167 ; RCV003487664
• dbSNP Id: rs4699030
• gnomAD v2: 4-103503824-G-C
• gnomAD v3: 4-102582667-G-C
• gnomAD v4: 4-102582667-G-C
• MyVariant Identifiers: chr4:g.103503824G>C (hg19) ; chr4:g.102582667G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102582667G>C , CM000666.2:g.102582667G>C	GRCh38
NC_000004.11:g.103503824G>C , CM000666.1:g.103503824G>C	GRCh37
NC_000004.10:g.103722862G>C	NCBI36
NG_050628.1:g.86339G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.860-199G>C	ENSP00000426147.2:n.860-199G>C
ENST00000509165.2:c.836-199G>C	ENSP00000423877.2:n.836-199G>C
ENST00000697794.1:c.*477-199G>C	ENSP00000513443.1:n.*477-199G>C
ENST00000697799.1:n.333-199G>C
ENST00000697800.1:n.47-199G>C
ENST00000226574.9:c.836-199G>C MANE Select	ENSP00000226574.4:n.836-199G>C
ENST00000652569.1:c.811+33G>C
ENST00000652619.1:c.857-199G>C	ENSP00000499031.1:n.857-199G>C
ENST00000226574.8:c.836-199G>C	ENSP00000226574.4:n.836-199G>C
ENST00000394820.8:c.833-199G>C	ENSP00000378297.4:n.833-199G>C
ENST00000505458.5:c.833-199G>C	ENSP00000424790.1:n.833-199G>C
ENST00000508584.1:c.215-199G>C	ENSP00000424815.1:n.215-199G>C
ENST00000600343.5:c.293-199G>C	ENSP00000469340.1:n.293-199G>C
NM_001165412.1:c.833-199G>C	NP_001158884.1:n.833-199G>C
NM_003998.3:c.836-199G>C	NP_003989.2:n.836-199G>C
XM_011532006.1:c.857-199G>C	XP_011530308.1:n.857-199G>C
XM_011532007.1:c.833-199G>C	XP_011530309.1:n.833-199G>C
XM_011532008.1:c.677-199G>C	XP_011530310.1:n.677-199G>C
XM_011532009.1:c.440-199G>C	XP_011530311.1:n.440-199G>C
NM_001319226.1:c.833-199G>C	NP_001306155.1:n.833-199G>C
XM_011532006.2:c.857-199G>C	XP_011530308.1:n.857-199G>C
XM_024454067.1:c.860-199G>C	XP_024309835.1:n.860-199G>C
XM_024454068.1:c.836-199G>C	XP_024309836.1:n.836-199G>C
XM_024454069.1:c.701-199G>C	XP_024309837.1:n.701-199G>C
NM_003998.4:c.836-199G>C MANE Select	NP_003989.2:n.836-199G>C
NM_001165412.2:c.833-199G>C	NP_001158884.1:n.833-199G>C
NM_001319226.2:c.833-199G>C	NP_001306155.1:n.833-199G>C
NM_001382625.1:c.836-199G>C	NP_001369554.1:n.836-199G>C
NM_001382626.1:c.836-199G>C	NP_001369555.1:n.836-199G>C
NM_001382627.1:c.833-199G>C	NP_001369556.1:n.833-199G>C
NM_001382628.1:c.794-199G>C	NP_001369557.1:n.794-199G>C