Canonical Allele Identifier: CA15326873

Gene: NFKB1

Linked Data

• dbSNP Id: rs230519
• gnomAD v2: 4-103466749-T-C
• gnomAD v3: 4-102545592-T-C
• gnomAD v4: 4-102545592-T-C
• MyVariant Identifiers: chr4:g.103466749T>C (hg19) ; chr4:g.102545592T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.102545592T>C , CM000666.2:g.102545592T>C	GRCh38
NC_000004.11:g.103466749T>C , CM000666.1:g.103466749T>C	GRCh37
NG_050628.1:g.49264T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000507079.6:c.282+7636T>C	ENSP00000426147.2:n.282+7636T>C
ENST00000509165.2:c.258+7636T>C	ENSP00000423877.2:n.258+7636T>C
ENST00000697793.1:n.356+7636T>C
ENST00000697794.1:c.118+15678T>C	ENSP00000513443.1:n.118+15678T>C
ENST00000697797.1:n.452+7636T>C
ENST00000226574.9:c.258+7636T>C MANE Select	ENSP00000226574.4:n.258+7636T>C
ENST00000652569.1:c.172+7636T>C
ENST00000652619.1:c.279+7636T>C	ENSP00000499031.1:n.279+7636T>C
ENST00000226574.8:c.258+7636T>C	ENSP00000226574.4:n.258+7636T>C
ENST00000394820.8:c.255+7636T>C	ENSP00000378297.4:n.255+7636T>C
ENST00000502367.1:n.358+7636T>C
ENST00000505458.5:c.255+7636T>C	ENSP00000424790.1:n.255+7636T>C
ENST00000507079.5:c.282+7636T>C	ENSP00000426147.1:n.282+7636T>C
ENST00000509165.1:c.258+7636T>C	ENSP00000423877.1:n.258+7636T>C
ENST00000513803.5:n.141+7636T>C
NM_001165412.1:c.255+7636T>C	NP_001158884.1:n.255+7636T>C
NM_003998.3:c.258+7636T>C	NP_003989.2:n.258+7636T>C
XM_011532006.1:c.279+7636T>C	XP_011530308.1:n.279+7636T>C
XM_011532007.1:c.255+7636T>C	XP_011530309.1:n.255+7636T>C
XM_011532008.1:c.258+7636T>C	XP_011530310.1:n.258+7636T>C
XM_011532009.1:c.-139+7636T>C	XP_011530311.1:n.-139+7636T>C
NM_001319226.1:c.255+7636T>C	NP_001306155.1:n.255+7636T>C
XM_011532006.2:c.279+7636T>C	XP_011530308.1:n.279+7636T>C
XM_024454067.1:c.282+7636T>C	XP_024309835.1:n.282+7636T>C
XM_024454068.1:c.258+7636T>C	XP_024309836.1:n.258+7636T>C
XM_024454069.1:c.282+7636T>C	XP_024309837.1:n.282+7636T>C
NM_003998.4:c.258+7636T>C MANE Select	NP_003989.2:n.258+7636T>C
NM_001165412.2:c.255+7636T>C	NP_001158884.1:n.255+7636T>C
NM_001319226.2:c.255+7636T>C	NP_001306155.1:n.255+7636T>C
NM_001382625.1:c.258+7636T>C	NP_001369554.1:n.258+7636T>C
NM_001382626.1:c.258+7636T>C	NP_001369555.1:n.258+7636T>C
NM_001382627.1:c.255+7636T>C	NP_001369556.1:n.255+7636T>C
NM_001382628.1:c.216+7636T>C	NP_001369557.1:n.216+7636T>C