Canonical Allele Identifier: CA2581745139
Gene: LRRC8B HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.89557237A>C , CM000663.2:g.89557237A>C GRCh38
NC_000001.10:g.90022796A>C , CM000663.1:g.90022796A>C GRCh37
NC_000001.9:g.89795384A>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
ENST00000330947.7:c.-240-11010A>C MANE Select ENSP00000332674.2:n.-240-11010A>C
ENST00000439853.6:c.-240-11010A>C ENSP00000400704.2:n.-240-11010A>C
ENST00000639264.1:c.-379-11010A>C ENSP00000492151.1:n.-379-11010A>C
ENST00000640258.1:c.-566-1474A>C ENSP00000491377.1:n.-566-1474A>C
ENST00000330947.6:c.-240-11010A>C ENSP00000332674.2:n.-240-11010A>C
ENST00000449440.5:c.-240-11010A>C ENSP00000395832.1:n.-240-11010A>C
NM_001134476.1:c.-241+7266A>C NP_001127948.1:n.-241+7266A>C
XM_005270701.3:c.-240-11010A>C XP_005270758.1:n.-240-11010A>C
XM_005270702.3:c.-240-11010A>C XP_005270759.1:n.-240-11010A>C
XM_005270703.3:c.-240-11010A>C XP_005270760.1:n.-240-11010A>C
XM_011541143.1:c.-241+7266A>C XP_011539445.1:n.-241+7266A>C
XM_011541144.1:c.-566-1474A>C XP_011539446.1:n.-566-1474A>C
XM_011541145.1:c.-566-1474A>C XP_011539447.1:n.-566-1474A>C
XM_011541146.1:c.-241+7266A>C XP_011539448.1:n.-241+7266A>C
XM_011541147.1:c.-241+7266A>C XP_011539449.1:n.-241+7266A>C
XM_011541148.1:c.-241+7266A>C XP_011539450.1:n.-241+7266A>C
XM_005270701.4:c.-240-11010A>C XP_005270758.1:n.-240-11010A>C
XM_005270702.4:c.-240-11010A>C XP_005270759.1:n.-240-11010A>C
XM_005270703.5:c.-240-11010A>C XP_005270760.1:n.-240-11010A>C
XM_011541143.2:c.-241+7266A>C XP_011539445.1:n.-241+7266A>C
XM_011541144.2:c.-566-1474A>C XP_011539446.1:n.-566-1474A>C
XM_011541145.2:c.-566-1474A>C XP_011539447.1:n.-566-1474A>C
XM_011541146.3:c.-241+7266A>C XP_011539448.1:n.-241+7266A>C
XM_011541148.2:c.-241+7266A>C XP_011539450.1:n.-241+7266A>C
XM_017000883.1:c.-567+454A>C XP_016856372.1:n.-567+454A>C
XM_017000884.1:c.-241+7266A>C XP_016856373.1:n.-241+7266A>C
XM_017000886.1:c.-240-11010A>C XP_016856375.1:n.-240-11010A>C
NM_001134476.2:c.-241+7266A>C NP_001127948.1:n.-241+7266A>C
NM_001369817.1:c.-240-11010A>C NP_001356746.1:n.-240-11010A>C
NM_001369819.1:c.-240-11010A>C NP_001356748.1:n.-240-11010A>C
NM_015350.4:c.-566-1474A>C NP_056165.1:n.-566-1474A>C
NM_001369817.2:c.-240-11010A>C MANE Select NP_001356746.1:n.-240-11010A>C
NM_001369819.2:c.-240-11010A>C NP_001356748.1:n.-240-11010A>C