Canonical Allele Identifier: CA16606381
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 387364
ClinVar RCV Id: RCV000425358 RCV002328971
dbSNP Id: rs3809315
gnomAD v2: 12-121416045-C-T
gnomAD v3: 12-120978242-C-T
gnomAD v4: 12-120978242-C-T
MyVariant Identifiers: chr12:g.121416045C>T (hg19) chr12:g.120978242C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978242C>T , CM000674.2:g.120978242C>T GRCh38
NC_000012.11:g.121416045C>T , CM000674.1:g.121416045C>T GRCh37
NC_000012.10:g.119900428C>T NCBI36
NG_011731.2:g.4497C>T , LRG_522:g.4497C>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253931.2:c.-527C>T XP_005253988.1:n.-527C>T
XM_024449168.1:c.-527C>T XP_024304936.1:n.-527C>T
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