Canonical Allele Identifier: CA553749094
Gene:

Linked Data

dbSNP Id: rs1453980626
gnomAD v2: 4-103420972-C-T
gnomAD v3: 4-102499815-C-T
gnomAD v4: 4-102499815-C-T
MyVariant Identifiers: chr4:g.103420972C>T (hg19) chr4:g.102499815C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499815C>T , CM000666.2:g.102499815C>T GRCh38
NC_000004.11:g.103420972C>T , CM000666.1:g.103420972C>T GRCh37
NC_000004.10:g.103640004C>T NCBI36
NG_050628.1:g.3487C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1434G>A XP_011530769.1:n.643+1434G>A
NR_136202.1:n.48+2624G>A
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