Canonical Allele Identifier: CA8564375

Gene: HAP1

Linked Data

• ClinVar Variation Id: 3048462
• ClinVar RCV Id: RCV003952212
• dbSNP Id: rs782470877
• ExAC: 17:39883349 C / T
• gnomAD v2: 17-39883349-C-T
• gnomAD v3: 17-41727097-C-T
• gnomAD v4: 17-41727097-C-T
• MyVariant Identifiers: chr17:g.39883349C>T (hg19) ; chr17:g.41727097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.41727097C>T , CM000679.2:g.41727097C>T	GRCh38
NC_000017.10:g.39883349C>T , CM000679.1:g.39883349C>T	GRCh37
NC_000017.9:g.37136875C>T	NCBI36
NG_009090.2:g.64616G>A , LRG_401:g.64616G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347901.9:c.1323G>A MANE Select	ENSP00000334002.4:p.Thr441=
ENST00000310778.5:c.1479G>A	ENSP00000309392.5:p.Thr493=
ENST00000341193.9:c.1272G>A	ENSP00000343170.5:p.Thr424=
ENST00000347901.8:c.1323G>A	ENSP00000334002.4:p.Thr441=
ENST00000393939.6:c.1248G>A	ENSP00000377513.2:p.Thr416=
NM_001079870.1:c.1272G>A	NP_001073339.1:p.Thr424=
NM_001079871.1:c.1248G>A	NP_001073340.1:p.Thr416=
NM_177977.2:c.1323G>A	NP_817084.2:p.Thr441=
NM_001367459.1:c.1419G>A	NP_001354388.1:p.Thr473=
NM_001367460.1:c.1383G>A	NP_001354389.1:p.Thr461=
NM_001367461.1:c.1248G>A	NP_001354390.1:p.Thr416=
NM_001367462.1:c.1248G>A	NP_001354391.1:p.Thr416=
NM_177977.3:c.1323G>A MANE Select	NP_817084.2:p.Thr441=