Canonical Allele Identifier: CA214668
Gene: HNF1A HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.120999607G>A
GRCh37 chr12:g.121437410G>A
Revel Score:
ENST00000257555 (MANE Select) 0.552
ENST00000535125 0.552
ENST00000537424 0.552
ENST00000543027 0.552
ENST00000541395 0.552
ENST00000544413 0.552
gnomAD v2:
12:121437410 G / A
gnomAD v3:
12:120999607 G / A
gnomAD v4:
chr12-120999607-G-A
Joint Max Group AF 0.00104042 (NFE)
Genomes Max Group AF 0.00061163 (NFE)
Exomes Max Group AF 0.00105734 (NFE)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.120999607G>A , CM000674.2:g.120999607G>A GRCh38
NC_000012.11:g.121437410G>A , CM000674.1:g.121437410G>A GRCh37
NC_000012.10:g.119921793G>A NCBI36
NG_011731.2:g.25862G>A , LRG_522:g.25862G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000560968.6:c.*495G>A ENSP00000453965.2:n.*495G>A
ENST00000257555.11:c.1748G>A MANE Select ENSP00000257555.5:p.Arg583Gln
ENST00000257555.10:c.1748G>A ENSP00000257555.4:p.Arg583Gln
ENST00000540108.1:c.*1188G>A ENSP00000445445.1:n.*1188G>A
ENST00000541395.5:c.1841G>A ENSP00000443112.1:p.Arg614Gln
ENST00000543427.5:c.1211G>A ENSP00000439721.2:p.Arg404Gln
ENST00000544413.2:c.1769G>A ENSP00000438804.1:p.Arg590Gln
ENST00000560968.5:c.1565G>A
ENST00000615446.4:c.536G>A ENSP00000483994.1:p.Arg179Gln
ENST00000617366.4:c.*157G>A ENSP00000481967.1:n.*157G>A
NM_000545.5:c.1748G>A , LRG_522t1:c.1748G>A NP_000536.5:p.Arg583Gln
NM_000545.6:c.1748G>A NP_000536.5:p.Arg583Gln
NM_001306179.1:c.1769G>A NP_001293108.1:p.Arg590Gln
XM_005253931.2:c.1841G>A XP_005253988.1:p.Arg614Gln
XM_024449168.1:c.1841G>A XP_024304936.1:p.Arg614Gln
NM_000545.8:c.1748G>A MANE Select NP_000536.6:p.Arg583Gln
NM_001306179.2:c.1769G>A NP_001293108.2:p.Arg590Gln
Search 100 bp 5'
Search 100 bp 3'