Canonical Allele Identifier: CA784579220
Gene:

Linked Data

dbSNP Id: rs546355754
gnomAD v3: 4-102499990-C-T
gnomAD v4: 4-102499990-C-T
MyVariant Identifiers: chr4:g.103421147C>T (hg19) chr4:g.102499990C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102499990C>T , CM000666.2:g.102499990C>T GRCh38
NC_000004.11:g.103421147C>T , CM000666.1:g.103421147C>T GRCh37
NC_000004.10:g.103640179C>T NCBI36
NG_050628.1:g.3662C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+1259G>A XP_011530769.1:n.643+1259G>A
NR_136202.1:n.48+2449G>A
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