Canonical Allele Identifier: CA10640435

Gene: HNF1A C12orf43

Linked Data

• ClinVar Variation Id: 307464
• ClinVar RCV Id: RCV001712018 ; RCV002221525
• dbSNP Id: rs1169309
• gnomAD v2: 12-121439192-G-T
• gnomAD v3: 12-121001389-G-T
• gnomAD v4: 12-121001389-G-T
• MyVariant Identifiers: chr12:g.121439192G>T (hg19) ; chr12:g.121001389G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121001389G>T , CM000674.2:g.121001389G>T	GRCh38
NC_000012.11:g.121439192G>T , CM000674.1:g.121439192G>T	GRCh37
NC_000012.10:g.119923575G>T	NCBI36
NG_011731.2:g.27644G>T , LRG_522:g.27644G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.*840G>T (HNF1A)	ENSP00000453965.2:n.*840G>T
ENST00000257555.11:c.*197G>T (HNF1A) MANE Select	ENSP00000257555.5:n.*197G>T
ENST00000257555.10:c.*197G>T (HNF1A)	ENSP00000257555.4:n.*197G>T
ENST00000288757.7:c.*2764C>A (C12orf43) MANE Select	ENSP00000288757.5:n.*2764C>A
ENST00000540108.1:c.*1533G>T (HNF1A)	ENSP00000445445.1:n.*1533G>T
ENST00000541395.5:c.*197G>T (HNF1A)	ENSP00000443112.1:n.*197G>T
ENST00000543427.5:c.*197G>T (HNF1A)	ENSP00000439721.2:n.*197G>T
ENST00000560968.5:c.1910G>T (HNF1A)
ENST00000615446.4:c.*197G>T (HNF1A)	ENSP00000483994.1:n.*197G>T
ENST00000617366.4:c.*502G>T (HNF1A)	ENSP00000481967.1:n.*502G>T
NM_000545.5:c.*197G>T , LRG_522t1:c.*197G>T (HNF1A)	NP_000536.5:n.*197G>T
NM_000545.6:c.*197G>T (HNF1A)	NP_000536.5:n.*197G>T
NM_001306179.1:c.*197G>T (HNF1A)	NP_001293108.1:n.*197G>T
XM_005253931.2:c.*197G>T (HNF1A)	XP_005253988.1:n.*197G>T
XM_024449168.1:c.*197G>T (HNF1A)	XP_024304936.1:n.*197G>T
NM_000545.8:c.*197G>T (HNF1A) MANE Select	NP_000536.6:n.*197G>T
NM_001286191.2:c.*2764C>A (C12orf43)	NP_001273120.1:n.*2764C>A
NM_001286196.2:c.*2764C>A (C12orf43)	NP_001273125.1:n.*2764C>A
NM_001306179.2:c.*197G>T (HNF1A)	NP_001293108.2:n.*197G>T
NM_022895.3:c.*2764C>A (C12orf43) MANE Select	NP_075046.1:n.*2764C>A