Canonical Allele Identifier: CA942309864
Gene:

Linked Data

gnomAD v3: 11-112164857-A-C
gnomAD v4: 11-112164857-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164857A>C , CM000673.2:g.112164857A>C GRCh38
NC_000011.9:g.112035580A>C , CM000673.1:g.112035580A>C GRCh37
NC_000011.8:g.111540790A>C NCBI36
NG_028143.1:g.4261T>G

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5562A>C
ENST00000531744.5:c.315-5562A>C ENSP00000456957.1:n.315-5562A>C
ENST00000532699.1:c.315-5562A>C ENSP00000456434.1:n.315-5562A>C
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