Canonical Allele Identifier: CA103120272
Gene:

Linked Data

dbSNP Id: rs536615278
gnomAD v3: 4-102499792-T-G
gnomAD v4: 4-102499792-T-G
MyVariant Identifiers: chr4:g.103420949T>G (hg19) chr4:g.102499792T>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499792T>G , CM000666.2:g.102499792T>G GRCh38
NC_000004.11:g.103420949T>G , CM000666.1:g.103420949T>G GRCh37
NC_000004.10:g.103639981T>G NCBI36
NG_050628.1:g.3464T>G

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1457A>C XP_011530769.1:n.643+1457A>C
NR_136202.1:n.48+2647A>C
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