Canonical Allele Identifier: CA1069047040

Gene: HHIP

Linked Data

• dbSNP Id: rs1812175
• gnomAD v3: 4-144653692-A-T
• gnomAD v4: 4-144653692-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144653692A>T , CM000666.2:g.144653692A>T	GRCh38
NC_000004.11:g.145574844A>T , CM000666.1:g.145574844A>T	GRCh37
NC_000004.10:g.145794294A>T	NCBI36
NG_011496.1:g.12672A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296575.8:c.472+895A>T MANE Select	ENSP00000296575.3:n.472+895A>T
ENST00000649263.1:c.328-237714T>A	ENSP00000497507.1:n.328-237714T>A
ENST00000296575.7:c.472+895A>T	ENSP00000296575.3:n.472+895A>T
ENST00000434550.2:c.472+895A>T	ENSP00000408587.2:n.472+895A>T
ENST00000505891.5:n.322+895A>T
ENST00000509630.1:n.139+895A>T
ENST00000511314.5:n.770+895A>T
ENST00000515080.1:n.535+895A>T
NM_022475.2:c.472+895A>T	NP_071920.1:n.472+895A>T
XM_005263178.3:c.472+895A>T	XP_005263235.1:n.472+895A>T
XM_006714288.2:c.472+895A>T	XP_006714351.1:n.472+895A>T
XM_005263178.5:c.472+895A>T	XP_005263235.1:n.472+895A>T
XM_006714288.4:c.472+895A>T	XP_006714351.1:n.472+895A>T
NM_022475.3:c.472+895A>T MANE Select	NP_071920.1:n.472+895A>T