Canonical Allele Identifier: CA103120432
Gene:

Linked Data

dbSNP Id: rs201157811
gnomAD v4: 4-102501002-A-G
MyVariant Identifiers: chr4:g.103422159A>G (hg19) chr4:g.102501002A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102501002A>G , CM000666.2:g.102501002A>G GRCh38
NC_000004.11:g.103422159A>G , CM000666.1:g.103422159A>G GRCh37
NC_000004.10:g.103641191A>G NCBI36
NG_050628.1:g.4674A>G

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+247T>C XP_011530769.1:n.643+247T>C
NR_136202.1:n.48+1437T>C
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