Canonical Allele Identifier: CA6832194

Gene: HNF1A C12orf43

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121001074G>C , CM000674.2:g.121001074G>C	GRCh38
NC_000012.11:g.121438877G>C , CM000674.1:g.121438877G>C	GRCh37
NC_000012.10:g.119923260G>C	NCBI36
NG_011731.2:g.27329G>C , LRG_522:g.27329G>C

Transcript Alleles

HGVS	Amino-acid Change
NM_000545.8:c.1778G>C (HNF1A) MANE Select	NP_000536.6:p.Ser593Thr
NM_022895.3:c.*3079C>G (C12orf43) MANE Select	NP_075046.1:n.*3079C>G
ENST00000257555.11:c.1778G>C (HNF1A) MANE Select	ENSP00000257555.5:p.Ser593Thr
ENST00000288757.7:c.*3079C>G (C12orf43) MANE Select	ENSP00000288757.5:n.*3079C>G
NM_000545.5:c.1778G>C , LRG_522t1:c.1778G>C (HNF1A)	NP_000536.5:p.Ser593Thr
NM_000545.6:c.1778G>C (HNF1A)	NP_000536.5:p.Ser593Thr
NM_001286191.2:c.*3079C>G (C12orf43)	NP_001273120.1:n.*3079C>G
NM_001286196.2:c.*3079C>G (C12orf43)	NP_001273125.1:n.*3079C>G
NM_001306179.1:c.1799G>C (HNF1A)	NP_001293108.1:p.Ser600Thr
NM_001306179.2:c.1799G>C (HNF1A)	NP_001293108.2:p.Ser600Thr
ENST00000257555.10:c.1778G>C (HNF1A)	ENSP00000257555.4:p.Ser593Thr
ENST00000540108.1:c.*1218G>C (HNF1A)	ENSP00000445445.1:n.*1218G>C
ENST00000541395.5:c.1871G>C (HNF1A)	ENSP00000443112.1:p.Ser624Thr
ENST00000543427.5:c.1241G>C (HNF1A)	ENSP00000439721.2:p.Ser414Thr
ENST00000544413.2:c.1799G>C (HNF1A)	ENSP00000438804.1:p.Ser600Thr
ENST00000560968.5:c.1595G>C (HNF1A)
ENST00000560968.6:c.*525G>C (HNF1A)	ENSP00000453965.2:n.*525G>C
ENST00000615446.4:c.566G>C (HNF1A)	ENSP00000483994.1:p.Ser189Thr
ENST00000617366.4:c.*187G>C (HNF1A)	ENSP00000481967.1:n.*187G>C
XM_005253931.2:c.1871G>C (HNF1A)	XP_005253988.1:p.Ser624Thr
XM_024449168.1:c.1871G>C (HNF1A)	XP_024304936.1:p.Ser624Thr