Canonical Allele Identifier: CA1069058476

Gene: HHIP

Linked Data

• dbSNP Id: rs1438552163
• gnomAD v3: 4-144728847-A-T
• gnomAD v4: 4-144728847-A-T

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728847A>T , CM000666.2:g.144728847A>T	GRCh38
NC_000004.11:g.145649999A>T , CM000666.1:g.145649999A>T	GRCh37
NC_000004.10:g.145869449A>T	NCBI36
NG_011496.1:g.87827A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296575.8:c.1761-5894A>T MANE Select	ENSP00000296575.3:n.1761-5894A>T
ENST00000649263.1:c.328-312869T>A	ENSP00000497507.1:n.328-312869T>A
ENST00000296575.7:c.1761-5894A>T	ENSP00000296575.3:n.1761-5894A>T
NM_022475.2:c.1761-5894A>T	NP_071920.1:n.1761-5894A>T
XM_005263178.3:c.1761-5894A>T	XP_005263235.1:n.1761-5894A>T
XM_006714288.2:c.1761-5894A>T	XP_006714351.1:n.1761-5894A>T
XM_005263178.5:c.1761-5894A>T	XP_005263235.1:n.1761-5894A>T
XM_006714288.4:c.1761-5894A>T	XP_006714351.1:n.1761-5894A>T
NM_022475.3:c.1761-5894A>T MANE Select	NP_071920.1:n.1761-5894A>T