Canonical Allele Identifier: CA107720951

Gene: HHIP

Linked Data

• dbSNP Id: rs905549861
• gnomAD v3: 4-144728702-G-C
• gnomAD v4: 4-144728702-G-C
• MyVariant Identifiers: chr4:g.145649854G>C (hg19) ; chr4:g.144728702G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.144728702G>C , CM000666.2:g.144728702G>C	GRCh38
NC_000004.11:g.145649854G>C , CM000666.1:g.145649854G>C	GRCh37
NC_000004.10:g.145869304G>C	NCBI36
NG_011496.1:g.87682G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000296575.8:c.1761-6039G>C MANE Select	ENSP00000296575.3:n.1761-6039G>C
ENST00000649263.1:c.328-312724C>G	ENSP00000497507.1:n.328-312724C>G
ENST00000296575.7:c.1761-6039G>C	ENSP00000296575.3:n.1761-6039G>C
NM_022475.2:c.1761-6039G>C	NP_071920.1:n.1761-6039G>C
XM_005263178.3:c.1761-6039G>C	XP_005263235.1:n.1761-6039G>C
XM_006714288.2:c.1761-6039G>C	XP_006714351.1:n.1761-6039G>C
XM_005263178.5:c.1761-6039G>C	XP_005263235.1:n.1761-6039G>C
XM_006714288.4:c.1761-6039G>C	XP_006714351.1:n.1761-6039G>C
NM_022475.3:c.1761-6039G>C MANE Select	NP_071920.1:n.1761-6039G>C