Canonical Allele Identifier: CA555411394

Gene: HHIP

Linked Data

• dbSNP Id: rs1390247940
• gnomAD v2: 4-145650028-G-T
• MyVariant Identifiers: chr4:g.145650028G>T (hg19) ; chr4:g.144728876G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728876G>T , CM000666.2:g.144728876G>T	GRCh38
NC_000004.11:g.145650028G>T , CM000666.1:g.145650028G>T	GRCh37
NC_000004.10:g.145869478G>T	NCBI36
NG_011496.1:g.87856G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000296575.8:c.1761-5865G>T MANE Select	ENSP00000296575.3:n.1761-5865G>T
ENST00000649263.1:c.328-312898C>A	ENSP00000497507.1:n.328-312898C>A
ENST00000296575.7:c.1761-5865G>T	ENSP00000296575.3:n.1761-5865G>T
NM_022475.2:c.1761-5865G>T	NP_071920.1:n.1761-5865G>T
XM_005263178.3:c.1761-5865G>T	XP_005263235.1:n.1761-5865G>T
XM_006714288.2:c.1761-5865G>T	XP_006714351.1:n.1761-5865G>T
XM_005263178.5:c.1761-5865G>T	XP_005263235.1:n.1761-5865G>T
XM_006714288.4:c.1761-5865G>T	XP_006714351.1:n.1761-5865G>T
NM_022475.3:c.1761-5865G>T MANE Select	NP_071920.1:n.1761-5865G>T