Canonical Allele Identifier: CA784579205
Gene:

Linked Data

dbSNP Id: rs1313876364
gnomAD v2: 4-103421117-G-A
gnomAD v3: 4-102499960-G-A
gnomAD v4: 4-102499960-G-A
MyVariant Identifiers: chr4:g.103421117G>A (hg19) chr4:g.102499960G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499960G>A , CM000666.2:g.102499960G>A GRCh38
NC_000004.11:g.103421117G>A , CM000666.1:g.103421117G>A GRCh37
NC_000004.10:g.103640149G>A NCBI36
NG_050628.1:g.3632G>A

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1289C>T XP_011530769.1:n.643+1289C>T
NR_136202.1:n.48+2479C>T
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