Canonical Allele Identifier: CA15696483
Gene:

Linked Data

dbSNP Id: rs1893767
gnomAD v2: 11-123956466-A-G
gnomAD v3: 11-124085759-A-G
gnomAD v4: 11-124085759-A-G
MyVariant Identifiers: chr11:g.123956466A>G (hg19) chr11:g.124085759A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.124085759A>G , CM000673.2:g.124085759A>G GRCh38
NC_000011.9:g.123956466A>G , CM000673.1:g.123956466A>G GRCh37
NC_000011.8:g.123461676A>G NCBI36

Transcript Alleles

HGVS Amino-acid change
XR_948127.1:n.279+623T>C
XR_948127.2:n.599+623T>C
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