Canonical Allele Identifier: CA103120237
Gene:

Linked Data

dbSNP Id: rs547607162
gnomAD v2: 4-103420762-A-G
gnomAD v3: 4-102499605-A-G
gnomAD v4: 4-102499605-A-G
MyVariant Identifiers: chr4:g.103420762A>G (hg19) chr4:g.102499605A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499605A>G , CM000666.2:g.102499605A>G GRCh38
NC_000004.11:g.103420762A>G , CM000666.1:g.103420762A>G GRCh37
NC_000004.10:g.103639794A>G NCBI36
NG_050628.1:g.3277A>G

Transcript Alleles

HGVS Amino-acid change
XM_011532467.1:c.643+1644T>C XP_011530769.1:n.643+1644T>C
NR_136202.1:n.48+2834T>C
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