Canonical Allele Identifier: CA626207302

Gene: HNF1B

Linked Data

• dbSNP Id: rs1485634994
• gnomAD v2: 17-36105017-C-T
• gnomAD v3: 17-37745026-C-T
• gnomAD v4: 17-37745026-C-T
• MyVariant Identifiers: chr17:g.36105017C>T (hg19) ; chr17:g.37745026C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.37745026C>T , CM000679.2:g.37745026C>T	GRCh38
NC_000017.10:g.36105017C>T , CM000679.1:g.36105017C>T	GRCh37
NC_000017.9:g.33179130C>T	NCBI36
NG_013019.2:g.5081G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000617811.5:c.-142G>A MANE Select	ENSP00000480291.1:n.-142G>A
ENST00000617811.4:c.-142G>A	ENSP00000480291.1:n.-142G>A
ENST00000620125.1:c.-142G>A	ENSP00000481245.1:n.-142G>A
ENST00000621123.4:c.-142G>A	ENSP00000482711.1:n.-142G>A
NM_000458.3:c.-142G>A	NP_000449.1:n.-142G>A
NM_001165923.3:c.-142G>A	NP_001159395.1:n.-142G>A
NM_001304286.1:c.-142G>A	NP_001291215.1:n.-142G>A
XM_011525160.1:c.-142G>A	XP_011523462.1:n.-142G>A
XM_011525161.1:c.-142G>A	XP_011523463.1:n.-142G>A
XM_011525162.1:c.-142G>A	XP_011523464.1:n.-142G>A
XM_011525163.1:c.-142G>A	XP_011523465.1:n.-142G>A
XM_011525164.1:c.-142G>A	XP_011523466.1:n.-142G>A
XM_011525162.2:c.-142G>A	XP_011523464.1:n.-142G>A
XM_011525163.2:c.-142G>A	XP_011523465.1:n.-142G>A
NM_000458.4:c.-142G>A MANE Select	NP_000449.1:n.-142G>A
NM_001165923.4:c.-142G>A	NP_001159395.1:n.-142G>A
NM_001304286.2:c.-142G>A	NP_001291215.1:n.-142G>A