Canonical Allele Identifier: CA788470122

Gene: HHIP

Linked Data

• dbSNP Id: rs1235795090
• gnomAD v3: 4-144728764-G-A
• gnomAD v4: 4-144728764-G-A
• MyVariant Identifiers: chr4:g.145649916G>A (hg19) ; chr4:g.144728764G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728764G>A , CM000666.2:g.144728764G>A	GRCh38
NC_000004.11:g.145649916G>A , CM000666.1:g.145649916G>A	GRCh37
NC_000004.10:g.145869366G>A	NCBI36
NG_011496.1:g.87744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296575.8:c.1761-5977G>A MANE Select	ENSP00000296575.3:n.1761-5977G>A
ENST00000649263.1:c.328-312786C>T	ENSP00000497507.1:n.328-312786C>T
ENST00000296575.7:c.1761-5977G>A	ENSP00000296575.3:n.1761-5977G>A
NM_022475.2:c.1761-5977G>A	NP_071920.1:n.1761-5977G>A
XM_005263178.3:c.1761-5977G>A	XP_005263235.1:n.1761-5977G>A
XM_006714288.2:c.1761-5977G>A	XP_006714351.1:n.1761-5977G>A
XM_005263178.5:c.1761-5977G>A	XP_005263235.1:n.1761-5977G>A
XM_006714288.4:c.1761-5977G>A	XP_006714351.1:n.1761-5977G>A
NM_022475.3:c.1761-5977G>A MANE Select	NP_071920.1:n.1761-5977G>A