Canonical Allele Identifier: CA203474937
Gene: ITGA8 HGNC NCBI
MyVariant.info:
GRCh38 chr10:g.15519544T>C
GRCh37 chr10:g.15561543T>C
gnomAD v2:
10:15561543 T / C
gnomAD v3:
10:15519544 T / C
gnomAD v4:
chr10-15519544-T-C
Joint Max Group AF 0.16281197 (MID)
Genomes Max Group AF 0.12331713 (NFE)
Exomes Max Group AF 0.16410106 (MID)
dbSNP:
7077361
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.15519544T>C , CM000672.2:g.15519544T>C GRCh38
NC_000010.10:g.15561543T>C , CM000672.1:g.15561543T>C GRCh37
NC_000010.9:g.15601549T>C NCBI36
NG_034116.1:g.205792A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000378076.4:c.2983-132A>G MANE Select ENSP00000367316.3:n.2983-132A>G
ENST00000378076.3:c.2983-132A>G ENSP00000367316.3:n.2983-132A>G
NM_001291494.1:c.2938-132A>G NP_001278423.1:n.2938-132A>G
NM_003638.2:c.2983-132A>G NP_003629.2:n.2983-132A>G
NM_003638.3:c.2983-132A>G MANE Select NP_003629.2:n.2983-132A>G
NM_001291494.2:c.2938-132A>G NP_001278423.1:n.2938-132A>G
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