Canonical Allele Identifier: CA2621393367

Gene: HNF1A C12orf43

Linked Data

• gnomAD v4: 12-121001532-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.121001532C>T , CM000674.2:g.121001532C>T	GRCh38
NC_000012.11:g.121439335C>T , CM000674.1:g.121439335C>T	GRCh37
NC_000012.10:g.119923718C>T	NCBI36
NG_011731.2:g.27787C>T , LRG_522:g.27787C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.*983C>T (HNF1A)	ENSP00000453965.2:n.*983C>T
ENST00000257555.11:c.*340C>T (HNF1A) MANE Select	ENSP00000257555.5:n.*340C>T
ENST00000257555.10:c.*340C>T (HNF1A)	ENSP00000257555.4:n.*340C>T
ENST00000288757.7:c.*2621G>A (C12orf43) MANE Select	ENSP00000288757.5:n.*2621G>A
ENST00000540108.1:c.*1676C>T (HNF1A)	ENSP00000445445.1:n.*1676C>T
ENST00000541395.5:c.*340C>T (HNF1A)	ENSP00000443112.1:n.*340C>T
ENST00000543427.5:c.*340C>T (HNF1A)	ENSP00000439721.2:n.*340C>T
ENST00000560968.5:c.2053C>T (HNF1A)
ENST00000615446.4:c.*340C>T (HNF1A)	ENSP00000483994.1:n.*340C>T
ENST00000617366.4:c.*645C>T (HNF1A)	ENSP00000481967.1:n.*645C>T
NM_000545.5:c.*340C>T , LRG_522t1:c.*340C>T (HNF1A)	NP_000536.5:n.*340C>T
NM_000545.6:c.*340C>T (HNF1A)	NP_000536.5:n.*340C>T
NM_001306179.1:c.*340C>T (HNF1A)	NP_001293108.1:n.*340C>T
XM_005253931.2:c.*340C>T (HNF1A)	XP_005253988.1:n.*340C>T
XM_024449168.1:c.*340C>T (HNF1A)	XP_024304936.1:n.*340C>T
NM_000545.8:c.*340C>T (HNF1A) MANE Select	NP_000536.6:n.*340C>T
NM_001286191.2:c.*2621G>A (C12orf43)	NP_001273120.1:n.*2621G>A
NM_001286196.2:c.*2621G>A (C12orf43)	NP_001273125.1:n.*2621G>A
NM_001306179.2:c.*340C>T (HNF1A)	NP_001293108.2:n.*340C>T
NM_022895.3:c.*2621G>A (C12orf43) MANE Select	NP_075046.1:n.*2621G>A