Canonical Allele Identifier: CA440620370
Gene:

Linked Data

dbSNP Id: rs1359046683
gnomAD v4: 4-102501224-C-T
MyVariant Identifiers: chr4:g.103422381C>T (hg19) chr4:g.102501224C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102501224C>T , CM000666.2:g.102501224C>T GRCh38
NC_000004.11:g.103422381C>T , CM000666.1:g.103422381C>T GRCh37
NC_000004.10:g.103641413C>T NCBI36
NG_050628.1:g.4896C>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.643+25G>A XP_011530769.1:n.643+25G>A
NR_136202.1:n.48+1215G>A
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