Canonical Allele Identifier: CA5420098
Gene: ITGA8 HGNC NCBI
COSMIC:
COSM3997867 (not active)
MyVariant.info:
GRCh38 chr10:g.15607711G>A
GRCh37 chr10:g.15649710G>A
Revel Score:
ENST00000378076 (MANE Select) 0.144
ENST00000538044 0.144
gnomAD v2:
10:15649710 G / A
gnomAD v3:
10:15607711 G / A
gnomAD v4:
chr10-15607711-G-A
Joint Max Group AF 0.08927987 (EAS)
Genomes Max Group AF 0.07678291 (EAS)
Exomes Max Group AF 0.09020713 (EAS)
ClinVar RCV:
RCV001639919
ClinVar Variation:
1238988
dbSNP:
2298033
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.15607711G>A , CM000672.2:g.15607711G>A GRCh38
NC_000010.10:g.15649710G>A , CM000672.1:g.15649710G>A GRCh37
NC_000010.9:g.15689716G>A NCBI36
NG_034116.1:g.117625C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000378076.4:c.1730C>T MANE Select ENSP00000367316.3:p.Ser577Phe
ENST00000378076.3:c.1730C>T ENSP00000367316.3:p.Ser577Phe
NM_001291494.1:c.1685C>T NP_001278423.1:p.Ser562Phe
NM_003638.2:c.1730C>T NP_003629.2:p.Ser577Phe
XM_011519752.1:c.1730C>T XP_011518054.1:p.Ser577Phe
XM_011519752.2:c.1730C>T XP_011518054.1:p.Ser577Phe
NM_003638.3:c.1730C>T MANE Select NP_003629.2:p.Ser577Phe
NM_001291494.2:c.1685C>T NP_001278423.1:p.Ser562Phe
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