Canonical Allele Identifier: CA11817065
Gene: HHIP HGNC NCBI
MyVariant.info:
GRCh38 chr4:g.144647200T>C
GRCh37 chr4:g.145568352T>C
gnomAD v2:
4:145568352 T / C
gnomAD v3:
4:144647200 T / C
gnomAD v4:
chr4-144647200-T-C
Joint Max Group AF 0.85427079 (SAS)
Genomes Max Group AF 0.85012239 (SAS)
Exomes Max Group AF 0.84930893 (SAS)
dbSNP:
7689420
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.144647200T>C , CM000666.2:g.144647200T>C GRCh38
NC_000004.11:g.145568352T>C , CM000666.1:g.145568352T>C GRCh37
NC_000004.10:g.145787802T>C NCBI36
NG_011496.1:g.6180T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000296575.8:c.279+246T>C MANE Select ENSP00000296575.3:n.279+246T>C
ENST00000649263.1:c.328-231222A>G ENSP00000497507.1:n.328-231222A>G
ENST00000296575.7:c.279+246T>C ENSP00000296575.3:n.279+246T>C
ENST00000434550.2:c.279+246T>C ENSP00000408587.2:n.279+246T>C
ENST00000505891.5:n.102T>C
NM_022475.2:c.279+246T>C NP_071920.1:n.279+246T>C
XM_005263178.3:c.279+246T>C XP_005263235.1:n.279+246T>C
XM_006714288.2:c.279+246T>C XP_006714351.1:n.279+246T>C
XM_005263178.5:c.279+246T>C XP_005263235.1:n.279+246T>C
XM_006714288.4:c.279+246T>C XP_006714351.1:n.279+246T>C
NM_022475.3:c.279+246T>C MANE Select NP_071920.1:n.279+246T>C
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