Canonical Allele Identifier: CA5420603
Gene: ITGA8 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.15677622C>G
GRCh37 chr10:g.15719621C>G
Revel Score:
ENST00000378076 (MANE Select) 0.086
ENST00000538044 0.086
gnomAD v2:
10:15719621 C / G
gnomAD v3:
10:15677622 C / G
gnomAD v4:
chr10-15677622-C-G
Joint Max Group AF 0.09588554 (AFR)
Genomes Max Group AF 0.09440615 (AFR)
Exomes Max Group AF 0.09600466 (AFR)
ClinVar RCV:
RCV000956810
ClinVar Variation:
776499
dbSNP:
7895372
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.15677622C>G , CM000672.2:g.15677622C>G GRCh38
NC_000010.10:g.15719621C>G , CM000672.1:g.15719621C>G GRCh37
NC_000010.9:g.15759627C>G NCBI36
NG_034116.1:g.47714G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000378076.4:c.646G>C MANE Select ENSP00000367316.3:p.Val216Leu
ENST00000378076.3:c.646G>C ENSP00000367316.3:p.Val216Leu
NM_001291494.1:c.646G>C NP_001278423.1:p.Val216Leu
NM_003638.2:c.646G>C NP_003629.2:p.Val216Leu
XM_011519752.1:c.646G>C XP_011518054.1:p.Val216Leu
XM_011519752.2:c.646G>C XP_011518054.1:p.Val216Leu
NM_003638.3:c.646G>C MANE Select NP_003629.2:p.Val216Leu
NM_001291494.2:c.646G>C NP_001278423.1:p.Val216Leu
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