Canonical Allele Identifier: CA671766128
Gene:

Linked Data

dbSNP Id: rs1375296883
gnomAD v3: 11-112164628-A-G
gnomAD v4: 11-112164628-A-G
MyVariant Identifiers: chr11:g.112035351A>G (hg19) chr11:g.112164628A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164628A>G , CM000673.2:g.112164628A>G GRCh38
NC_000011.9:g.112035351A>G , CM000673.1:g.112035351A>G GRCh37
NC_000011.8:g.111540561A>G NCBI36
NG_028143.1:g.4490T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-5791A>G
ENST00000531744.5:c.315-5791A>G ENSP00000456957.1:n.315-5791A>G
ENST00000532699.1:c.315-5791A>G ENSP00000456434.1:n.315-5791A>G
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