Canonical Allele Identifier: CA671766149
Gene:

Linked Data

dbSNP Id: rs1249634361
gnomAD v3: 11-112164665-C-T
gnomAD v4: 11-112164665-C-T
MyVariant Identifiers: chr11:g.112035388C>T (hg19) chr11:g.112164665C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164665C>T , CM000673.2:g.112164665C>T GRCh38
NC_000011.9:g.112035388C>T , CM000673.1:g.112035388C>T GRCh37
NC_000011.8:g.111540598C>T NCBI36
NG_028143.1:g.4453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-5754C>T
ENST00000531744.5:c.315-5754C>T ENSP00000456957.1:n.315-5754C>T
ENST00000532699.1:c.315-5754C>T ENSP00000456434.1:n.315-5754C>T
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