Canonical Allele Identifier: CA228571746
Gene:

Linked Data

dbSNP Id: rs1044117153
gnomAD v3: 11-112164741-A-T
gnomAD v4: 11-112164741-A-T
MyVariant Identifiers: chr11:g.112035464A>T (hg19) chr11:g.112164741A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164741A>T , CM000673.2:g.112164741A>T GRCh38
NC_000011.9:g.112035464A>T , CM000673.1:g.112035464A>T GRCh37
NC_000011.8:g.111540674A>T NCBI36
NG_028143.1:g.4377T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000525987.5:n.320-5678A>T
ENST00000531744.5:c.315-5678A>T ENSP00000456957.1:n.315-5678A>T
ENST00000532699.1:c.315-5678A>T ENSP00000456434.1:n.315-5678A>T
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