Canonical Allele Identifier: CA6831654

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 435422
• ClinVar RCV Id: RCV000500944 ; RCV001248912 ; RCV002506225 ; RCV002464218
• dbSNP Id: rs774637975
• ExAC: 12:121416600 C / T
• gnomAD v2: 12-121416600-C-T
• gnomAD v3: 12-120978797-C-T
• gnomAD v4: 12-120978797-C-T
• MyVariant Identifiers: chr12:g.121416600C>T (hg19) ; chr12:g.120978797C>T (hg38)
• ERepo: CA6831654/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120978797C>T , CM000674.2:g.120978797C>T	GRCh38
NC_000012.11:g.121416600C>T , CM000674.1:g.121416600C>T	GRCh37
NC_000012.10:g.119900983C>T	NCBI36
NG_011731.2:g.5052C>T , LRG_522:g.5052C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000560968.6:c.29C>T	ENSP00000453965.2:p.Thr10Met
ENST00000257555.11:c.29C>T MANE Select	ENSP00000257555.5:p.Thr10Met
ENST00000257555.10:c.29C>T	ENSP00000257555.4:p.Thr10Met
ENST00000400024.6:c.29C>T	ENSP00000476181.1:p.Thr10Met
ENST00000402929.5:n.164C>T
ENST00000535955.5:n.42+105C>T
ENST00000538626.2:n.147C>T
ENST00000538646.5:c.29C>T	ENSP00000443964.1:p.Thr10Met
ENST00000540108.1:c.29C>T	ENSP00000445445.1:p.Thr10Met
ENST00000541395.5:c.29C>T	ENSP00000443112.1:p.Thr10Met
ENST00000541924.5:c.29C>T	ENSP00000440361.1:p.Thr10Met
ENST00000543427.5:c.29C>T	ENSP00000439721.2:p.Thr10Met
ENST00000544413.2:c.29C>T	ENSP00000438804.1:p.Thr10Met
ENST00000544574.5:c.29C>T	ENSP00000438565.1:p.Thr10Met
ENST00000560968.5:c.172C>T
ENST00000615446.4:c.-258+86C>T	ENSP00000483994.1:n.-258+86C>T
ENST00000617366.4:c.29C>T	ENSP00000481967.1:p.Thr10Met
NM_000545.5:c.29C>T , LRG_522t1:c.29C>T	NP_000536.5:p.Thr10Met
NM_000545.6:c.29C>T	NP_000536.5:p.Thr10Met
NM_001306179.1:c.29C>T	NP_001293108.1:p.Thr10Met
XM_005253931.2:c.29C>T	XP_005253988.1:p.Thr10Met
XM_024449168.1:c.29C>T	XP_024304936.1:p.Thr10Met
NM_000545.8:c.29C>T MANE Select	NP_000536.6:p.Thr10Met
NM_001306179.2:c.29C>T	NP_001293108.2:p.Thr10Met