Canonical Allele Identifier: CA440620490
Gene:

Linked Data

dbSNP Id: rs1289203997
gnomAD v3: 4-102501265-G-T
gnomAD v4: 4-102501265-G-T
MyVariant Identifiers: chr4:g.103422422G>T (hg19) chr4:g.102501265G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.102501265G>T , CM000666.2:g.102501265G>T GRCh38
NC_000004.11:g.103422422G>T , CM000666.1:g.103422422G>T GRCh37
NC_000004.10:g.103641454G>T NCBI36
NG_050628.1:g.4937G>T

Transcript Alleles

HGVS Amino-acid Change
XM_011532467.1:c.627C>A XP_011530769.1:p.His209Gln
NR_136202.1:n.48+1174C>A
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