Canonical Allele Identifier: CA553749092
Gene:

Linked Data

dbSNP Id: rs1425931906
gnomAD v2: 4-103420951-A-C
gnomAD v3: 4-102499794-A-C
gnomAD v4: 4-102499794-A-C
MyVariant Identifiers: chr4:g.103420951A>C (hg19) chr4:g.102499794A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499794A>C , CM000666.2:g.102499794A>C GRCh38
NC_000004.11:g.103420951A>C , CM000666.1:g.103420951A>C GRCh37
NC_000004.10:g.103639983A>C NCBI36
NG_050628.1:g.3466A>C

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1455T>G XP_011530769.1:n.643+1455T>G
NR_136202.1:n.48+2645T>G
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