Canonical Allele Identifier: CA92831161
Gene:

Linked Data

dbSNP Id: rs542222648
gnomAD v3: 4-11501998-G-C
gnomAD v4: 4-11501998-G-C
MyVariant Identifiers: chr4:g.11503622G>C (hg19) chr4:g.11501998G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.11501998G>C , CM000666.2:g.11501998G>C GRCh38
NC_000004.11:g.11503622G>C , CM000666.1:g.11503622G>C GRCh37
NC_000004.10:g.11112720G>C NCBI36

Transcript Alleles

HGVS Amino-acid Change
XR_001741361.1:n.950+19152G>C
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