Canonical Allele Identifier: CA942309810
Gene:

Linked Data

dbSNP Id: rs1866693616
gnomAD v3: 11-112164659-G-A
gnomAD v4: 11-112164659-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164659G>A , CM000673.2:g.112164659G>A GRCh38
NC_000011.9:g.112035382G>A , CM000673.1:g.112035382G>A GRCh37
NC_000011.8:g.111540592G>A NCBI36
NG_028143.1:g.4459C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-5760G>A
ENST00000531744.5:c.315-5760G>A ENSP00000456957.1:n.315-5760G>A
ENST00000532699.1:c.315-5760G>A ENSP00000456434.1:n.315-5760G>A
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