Canonical Allele Identifier: CA942309791
Gene:

Linked Data

dbSNP Id: rs1866692460
gnomAD v3: 11-112164593-C-G
gnomAD v4: 11-112164593-C-G
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.112164593C>G , CM000673.2:g.112164593C>G GRCh38
NC_000011.9:g.112035316C>G , CM000673.1:g.112035316C>G GRCh37
NC_000011.8:g.111540526C>G NCBI36
NG_028143.1:g.4525G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000525987.5:n.320-5826C>G
ENST00000531744.5:c.315-5826C>G ENSP00000456957.1:n.315-5826C>G
ENST00000532699.1:c.315-5826C>G ENSP00000456434.1:n.315-5826C>G
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