Canonical Allele Identifier: CA244520014
Gene: HNF1A HGNC NCBI

Linked Data

ClinVar Variation Id: 449034
ClinVar RCV Id: RCV000518964 RCV002329229
dbSNP Id: rs1039479235
gnomAD v2: 12-121416105-C-T
gnomAD v3: 12-120978302-C-T
gnomAD v4: 12-120978302-C-T
COSMIC: COSN8538626
MyVariant Identifiers: chr12:g.121416105C>T (hg19) chr12:g.120978302C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120978302C>T , CM000674.2:g.120978302C>T GRCh38
NC_000012.11:g.121416105C>T , CM000674.1:g.121416105C>T GRCh37
NC_000012.10:g.119900488C>T NCBI36
NG_011731.2:g.4557C>T , LRG_522:g.4557C>T

Transcript Alleles

HGVS Amino-acid Change
XM_005253931.2:c.-467C>T XP_005253988.1:n.-467C>T
XM_024449168.1:c.-467C>T XP_024304936.1:n.-467C>T
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