Canonical Allele Identifier: CA788470263

Gene: HHIP

Linked Data

• dbSNP Id: rs1054439468
• gnomAD v3: 4-144729001-A-G
• gnomAD v4: 4-144729001-A-G
• MyVariant Identifiers: chr4:g.145650153A>G (hg19) ; chr4:g.144729001A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144729001A>G , CM000666.2:g.144729001A>G	GRCh38
NC_000004.11:g.145650153A>G , CM000666.1:g.145650153A>G	GRCh37
NC_000004.10:g.145869603A>G	NCBI36
NG_011496.1:g.87981A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296575.8:c.1761-5740A>G MANE Select	ENSP00000296575.3:n.1761-5740A>G
ENST00000649263.1:c.328-313023T>C	ENSP00000497507.1:n.328-313023T>C
ENST00000296575.7:c.1761-5740A>G	ENSP00000296575.3:n.1761-5740A>G
NM_022475.2:c.1761-5740A>G	NP_071920.1:n.1761-5740A>G
XM_005263178.3:c.1761-5740A>G	XP_005263235.1:n.1761-5740A>G
XM_006714288.2:c.1761-5740A>G	XP_006714351.1:n.1761-5740A>G
XM_005263178.5:c.1761-5740A>G	XP_005263235.1:n.1761-5740A>G
XM_006714288.4:c.1761-5740A>G	XP_006714351.1:n.1761-5740A>G
NM_022475.3:c.1761-5740A>G MANE Select	NP_071920.1:n.1761-5740A>G