Canonical Allele Identifier: CA12582597
Gene: ITGB8 HGNC NCBI

Linked Data

dbSNP Id: rs10251386
gnomAD v2: 7-20397907-T-C
gnomAD v3: 7-20358284-T-C
gnomAD v4: 7-20358284-T-C

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.20358284T>C , CM000669.2:g.20358284T>C GRCh38
NC_000007.13:g.20397907T>C , CM000669.1:g.20397907T>C GRCh37
NC_000007.12:g.20364432T>C NCBI36

Transcript Alleles

HGVS Amino-acid change
ENST00000222573.5:c.128-5353T>C MANE Select ENSP00000222573.3:n.128-5353T>C
ENST00000222573.4:c.128-5353T>C ENSP00000222573.3:n.128-5353T>C
ENST00000478974.1:n.833-5353T>C
ENST00000537992.5:c.-278-5353T>C ENSP00000441561.1:n.-278-5353T>C
NM_002214.2:c.128-5353T>C NP_002205.1:n.128-5353T>C
XM_011515392.1:c.104-4583T>C XP_011513694.1:n.104-4583T>C
XM_011515393.1:c.104-5353T>C XP_011513695.1:n.104-5353T>C
XM_011515394.1:c.95-5353T>C XP_011513696.1:n.95-5353T>C
XM_011515395.1:c.-278-5353T>C XP_011513697.1:n.-278-5353T>C
XM_011515396.1:c.-278-5353T>C XP_011513698.1:n.-278-5353T>C
XM_011515393.2:c.104-5353T>C XP_011513695.1:n.104-5353T>C
XM_011515394.2:c.95-5353T>C XP_011513696.1:n.95-5353T>C
XM_017012178.1:c.128-5353T>C XP_016867667.1:n.128-5353T>C
XM_017012179.1:c.128-5353T>C XP_016867668.1:n.128-5353T>C
XM_017012180.1:c.-279+2262T>C XP_016867669.1:n.-279+2262T>C
XM_017012181.1:c.-278-5353T>C XP_016867670.1:n.-278-5353T>C
XM_017012182.1:c.-278-5353T>C XP_016867671.1:n.-278-5353T>C
XM_017012183.1:c.-278-5353T>C XP_016867672.1:n.-278-5353T>C
NM_002214.3:c.128-5353T>C MANE Select NP_002205.1:n.128-5353T>C