Canonical Allele Identifier: CA553749090
Gene:

Linked Data

dbSNP Id: rs1183511416
gnomAD v2: 4-103420944-A-T
MyVariant Identifiers: chr4:g.103420944A>T (hg19) chr4:g.102499787A>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499787A>T , CM000666.2:g.102499787A>T GRCh38
NC_000004.11:g.103420944A>T , CM000666.1:g.103420944A>T GRCh37
NC_000004.10:g.103639976A>T NCBI36
NG_050628.1:g.3459A>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1462T>A XP_011530769.1:n.643+1462T>A
NR_136202.1:n.48+2652T>A
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