Canonical Allele Identifier: CA645372549

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 435427
• ClinVar RCV Id: RCV000503455 ; RCV001810453 ; RCV002329196 ; RCV002473027
• dbSNP Id: rs1555212359
• MyVariant Identifiers: chr12:g.121435326del (hg19) ; chr12:g.120997523del (hg38)
• ERepo: CA645372549/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120997523del , CM000674.2:g.120997523del	GRCh38
NC_000012.11:g.121435326del , CM000674.1:g.121435326del	GRCh37
NC_000012.10:g.119919709del	NCBI36
NG_011731.2:g.23778del , LRG_522:g.23778del

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*106del	ENSP00000453965.2:n.*106del
ENST00000257555.11:c.1359del MANE Select	ENSP00000257555.5:p.Ser454AlafsTer3
ENST00000257555.10:c.1359del	ENSP00000257555.4:p.Ser454AlafsTer3
ENST00000400024.6:c.1359del	ENSP00000476181.1:p.Ser454AlafsTer3
ENST00000402929.5:n.2225del
ENST00000535955.5:n.75del
ENST00000538626.2:n.223del
ENST00000538646.5:c.*335del	ENSP00000443964.1:n.*335del
ENST00000540108.1:c.*799del	ENSP00000445445.1:n.*799del
ENST00000541395.5:c.1359del	ENSP00000443112.1:p.Ser454AlafsTer3
ENST00000541924.5:c.*373del	ENSP00000440361.1:n.*373del
ENST00000543255.1:n.403del
ENST00000543427.5:c.822del	ENSP00000439721.2:p.Ser275AlafsTer3
ENST00000544413.2:c.1359del	ENSP00000438804.1:p.Ser454AlafsTer3
ENST00000544574.5:c.*122del	ENSP00000438565.1:n.*122del
ENST00000560968.5:c.1176del
ENST00000615446.4:c.147del	ENSP00000483994.1:p.Ser50AlafsTer3
ENST00000617366.4:c.587-111del	ENSP00000481967.1:n.587-111del
NM_000545.5:c.1359del , LRG_522t1:c.1359del	NP_000536.5:p.Ser454AlafsTer3
NM_000545.6:c.1359del	NP_000536.5:p.Ser454AlafsTer3
NM_001306179.1:c.1359del	NP_001293108.1:p.Ser454AlafsTer3
XM_005253931.2:c.1359del	XP_005253988.1:p.Ser454AlafsTer3
XM_024449168.1:c.1359del	XP_024304936.1:p.Ser454AlafsTer3
NM_000545.8:c.1359del MANE Select	NP_000536.6:p.Ser454AlafsTer3
NM_001306179.2:c.1359del	NP_001293108.2:p.Ser454AlafsTer3