Canonical Allele Identifier: CA386965177

Gene: HNF1A

Linked Data

• ClinVar Variation Id: 1676708
• ClinVar RCV Id: RCV002222105
• dbSNP Id: rs1057520779
• MyVariant Identifiers: chr12:g.121431482G>C (hg19) ; chr12:g.120993679G>C (hg38)
• ERepo: CA386965177/MONDO:0015967/017

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.120993679G>C , CM000674.2:g.120993679G>C	GRCh38
NC_000012.11:g.121431482G>C , CM000674.1:g.121431482G>C	GRCh37
NC_000012.10:g.119915865G>C	NCBI36
NG_011731.2:g.19934G>C , LRG_522:g.19934G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000560968.6:c.686G>C	ENSP00000453965.2:p.Arg229Pro
ENST00000257555.11:c.686G>C MANE Select	ENSP00000257555.5:p.Arg229Pro
ENST00000257555.10:c.686G>C	ENSP00000257555.4:p.Arg229Pro
ENST00000400024.6:c.686G>C	ENSP00000476181.1:p.Arg229Pro
ENST00000402929.5:n.821G>C
ENST00000535955.5:n.43-3812G>C
ENST00000538626.2:n.191-3812G>C
ENST00000538646.5:c.527-485G>C	ENSP00000443964.1:n.527-485G>C
ENST00000540108.1:c.*126G>C	ENSP00000445445.1:n.*126G>C
ENST00000541395.5:c.686G>C	ENSP00000443112.1:p.Arg229Pro
ENST00000541924.5:c.686G>C	ENSP00000440361.1:p.Arg229Pro
ENST00000543427.5:c.633+53G>C	ENSP00000439721.2:n.633+53G>C
ENST00000544413.2:c.686G>C	ENSP00000438804.1:p.Arg229Pro
ENST00000544574.5:c.73-2938G>C	ENSP00000438565.1:n.73-2938G>C
ENST00000560968.5:c.829G>C
ENST00000615446.4:c.-257-2583G>C	ENSP00000483994.1:n.-257-2583G>C
ENST00000617366.4:c.586+100G>C	ENSP00000481967.1:n.586+100G>C
NM_000545.5:c.686G>C , LRG_522t1:c.686G>C	NP_000536.5:p.Arg229Pro
NM_000545.6:c.686G>C	NP_000536.5:p.Arg229Pro
NM_001306179.1:c.686G>C	NP_001293108.1:p.Arg229Pro
XM_005253931.2:c.686G>C	XP_005253988.1:p.Arg229Pro
XM_024449168.1:c.686G>C	XP_024304936.1:p.Arg229Pro
NM_000545.8:c.686G>C MANE Select	NP_000536.6:p.Arg229Pro
NM_001306179.2:c.686G>C	NP_001293108.2:p.Arg229Pro