Canonical Allele Identifier: CA784569314

Gene: NFKB1

Linked Data

• dbSNP Id: rs1464194576
• gnomAD v3: 4-102598491-T-C
• gnomAD v4: 4-102598491-T-C
• MyVariant Identifiers: chr4:g.103519648T>C (hg19) ; chr4:g.102598491T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102598491T>C , CM000666.2:g.102598491T>C	GRCh38
NC_000004.11:g.103519648T>C , CM000666.1:g.103519648T>C	GRCh37
NC_000004.10:g.103738686T>C	NCBI36
NG_050628.1:g.102163T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000507079.6:c.1661+830T>C	ENSP00000426147.2:n.1661+830T>C
ENST00000509165.2:c.1637+830T>C	ENSP00000423877.2:n.1637+830T>C
ENST00000697794.1:c.*1278+830T>C	ENSP00000513443.1:n.*1278+830T>C
ENST00000697799.1:n.1134+830T>C
ENST00000698233.1:n.1366+830T>C
ENST00000226574.9:c.1637+830T>C MANE Select	ENSP00000226574.4:n.1637+830T>C
ENST00000652569.1:c.1613+830T>C
ENST00000652619.1:c.*164+830T>C	ENSP00000499031.1:n.*164+830T>C
ENST00000226574.8:c.1637+830T>C	ENSP00000226574.4:n.1637+830T>C
ENST00000394820.8:c.1634+830T>C	ENSP00000378297.4:n.1634+830T>C
ENST00000505458.5:c.1634+830T>C	ENSP00000424790.1:n.1634+830T>C
ENST00000600343.5:c.1094+830T>C	ENSP00000469340.1:n.1094+830T>C
NM_001165412.1:c.1634+830T>C	NP_001158884.1:n.1634+830T>C
NM_003998.3:c.1637+830T>C	NP_003989.2:n.1637+830T>C
XM_011532006.1:c.1658+830T>C	XP_011530308.1:n.1658+830T>C
XM_011532007.1:c.1634+830T>C	XP_011530309.1:n.1634+830T>C
XM_011532008.1:c.1478+830T>C	XP_011530310.1:n.1478+830T>C
XM_011532009.1:c.1241+830T>C	XP_011530311.1:n.1241+830T>C
XR_939027.1:n.3836A>G
NM_001319226.1:c.1634+830T>C	NP_001306155.1:n.1634+830T>C
XM_011532006.2:c.1658+830T>C	XP_011530308.1:n.1658+830T>C
XM_024454067.1:c.1661+830T>C	XP_024309835.1:n.1661+830T>C
XM_024454068.1:c.1637+830T>C	XP_024309836.1:n.1637+830T>C
XM_024454069.1:c.1502+830T>C	XP_024309837.1:n.1502+830T>C
NM_003998.4:c.1637+830T>C MANE Select	NP_003989.2:n.1637+830T>C
NM_001165412.2:c.1634+830T>C	NP_001158884.1:n.1634+830T>C
NM_001319226.2:c.1634+830T>C	NP_001306155.1:n.1634+830T>C
NM_001382625.1:c.1637+830T>C	NP_001369554.1:n.1637+830T>C
NM_001382626.1:c.1637+830T>C	NP_001369555.1:n.1637+830T>C
NM_001382627.1:c.1634+830T>C	NP_001369556.1:n.1634+830T>C
NM_001382628.1:c.1595+830T>C	NP_001369557.1:n.1595+830T>C