Canonical Allele Identifier: CA202158

Gene: LRBA

Linked Data

• ClinVar Variation Id: 196133
• ClinVar RCV Id: RCV000176879
• dbSNP Id: rs186080
• ExAC: 4:151765243 G / A
• gnomAD v2: 4-151765243-G-A
• gnomAD v3: 4-150844091-G-A
• gnomAD v4: 4-150844091-G-A
• MyVariant Identifiers: chr4:g.151765243G>A (hg19) ; chr4:g.150844091G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.150844091G>A , CM000666.2:g.150844091G>A	GRCh38
NC_000004.11:g.151765243G>A , CM000666.1:g.151765243G>A	GRCh37
NC_000004.10:g.151984693G>A	NCBI36
NG_032855.1:g.176407C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000651695.2:c.4569+9C>T	ENSP00000498254.2:n.4569+9C>T
ENST00000697129.1:n.2896+9C>T
ENST00000357115.9:c.4569+9C>T	ENSP00000349629.3:n.4569+9C>T
ENST00000651035.1:c.4569+9C>T	ENSP00000498673.1:n.4569+9C>T
ENST00000651695.1:c.2283+9C>T	ENSP00000498254.1:n.2283+9C>T
ENST00000651943.2:c.4569+9C>T MANE Select	ENSP00000498582.2:n.4569+9C>T
ENST00000357115.7:c.4569+9C>T	ENSP00000349629.3:n.4569+9C>T
ENST00000502839.1:c.300+9C>T	ENSP00000424640.1:n.300+9C>T
ENST00000507224.5:c.4569+9C>T	ENSP00000422180.1:n.4569+9C>T
ENST00000509835.5:c.527+9C>T
ENST00000510413.5:c.4569+9C>T	ENSP00000421552.1:n.4569+9C>T
NM_001199282.2:c.4569+9C>T	NP_001186211.2:n.4569+9C>T
NM_006726.4:c.4569+9C>T	NP_006717.2:n.4569+9C>T
XM_005263372.2:c.4569+9C>T	XP_005263429.1:n.4569+9C>T
XM_005263373.1:c.4569+9C>T	XP_005263430.1:n.4569+9C>T
XM_005263374.2:c.4569+9C>T	XP_005263431.1:n.4569+9C>T
XM_005263375.2:c.4569+9C>T	XP_005263432.1:n.4569+9C>T
XM_005263377.2:c.4569+9C>T	XP_005263434.1:n.4569+9C>T
XM_011532434.1:c.4569+9C>T	XP_011530736.1:n.4569+9C>T
NM_001364905.1:c.4569+9C>T MANE Select	NP_001351834.1:n.4569+9C>T
XM_005263372.3:c.4569+9C>T	XP_005263429.1:n.4569+9C>T
XM_005263373.3:c.4569+9C>T	XP_005263430.1:n.4569+9C>T
XM_005263374.3:c.4569+9C>T	XP_005263431.1:n.4569+9C>T
XM_011532434.2:c.4569+9C>T	XP_011530736.1:n.4569+9C>T
XM_017008872.2:c.4569+9C>T	XP_016864361.1:n.4569+9C>T
NM_001367550.1:c.4569+9C>T	NP_001354479.1:n.4569+9C>T