Canonical Allele Identifier: CA103120429
Gene:

Linked Data

dbSNP Id: rs964820610
gnomAD v3: 4-102500997-C-T
gnomAD v4: 4-102500997-C-T
MyVariant Identifiers: chr4:g.103422154C>T (hg19) chr4:g.102500997C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102500997C>T , CM000666.2:g.102500997C>T GRCh38
NC_000004.11:g.103422154C>T , CM000666.1:g.103422154C>T GRCh37
NC_000004.10:g.103641186C>T NCBI36
NG_050628.1:g.4669C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+252G>A XP_011530769.1:n.643+252G>A
NR_136202.1:n.48+1442G>A
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