Canonical Allele Identifier: CA61589422
Gene: ITGA4 HGNC NCBI
MyVariant.info:
GRCh38 chr2:g.181458938C>T
GRCh37 chr2:g.182323665C>T
gnomAD v2:
2:182323665 C / T
gnomAD v3:
2:181458938 C / T
gnomAD v4:
chr2-181458938-C-T
Joint Max Group AF 0.27081494 (EAS)
Genomes Max Group AF 0.27081494 (EAS)
Exomes Max Group AF 0.00335186 (NFE)
dbSNP:
12988934
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.181458938C>T , CM000664.2:g.181458938C>T GRCh38
NC_000002.11:g.182323665C>T , CM000664.1:g.182323665C>T GRCh37
NC_000002.10:g.182031910C>T NCBI36
NG_050623.1:g.7047C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000397033.7:c.319+621C>T MANE Select ENSP00000380227.2:n.319+621C>T
ENST00000233573.6:c.319+621C>T ENSP00000233573.6:n.319+621C>T
ENST00000339307.8:c.319+621C>T ENSP00000340149.4:n.319+621C>T
ENST00000397033.6:c.319+621C>T ENSP00000380227.2:n.319+621C>T
ENST00000465522.5:n.570+621C>T
ENST00000476089.1:n.1393C>T
ENST00000478440.1:n.77+621C>T
ENST00000484404.1:n.261+621C>T
NM_000885.4:c.319+621C>T NP_000876.3:n.319+621C>T
NM_000885.5:c.319+621C>T NP_000876.3:n.319+621C>T
NM_001316312.1:c.319+621C>T NP_001303241.1:n.319+621C>T
NM_000885.6:c.319+621C>T MANE Select NP_000876.3:n.319+621C>T
NM_001316312.2:c.319+621C>T NP_001303241.1:n.319+621C>T
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