Canonical Allele Identifier: CA410733980

Gene: ZDHHC8

Linked Data

• ClinVar Variation Id: 3192796
• ClinVar RCV Id: RCV004483716
• gnomAD v4: 22-20139595-C-T
• MyVariant Identifiers: chr22:g.20127118C>T (hg19) ; chr22:g.20139595C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20139595C>T , CM000684.2:g.20139595C>T	GRCh38
NC_000022.10:g.20127118C>T , CM000684.1:g.20127118C>T	GRCh37
NC_000022.9:g.18507118C>T	NCBI36
NG_021420.1:g.12755C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334554.12:c.344C>T MANE Select	ENSP00000334490.7:p.Pro115Leu
ENST00000320602.11:c.344C>T	ENSP00000317804.7:p.Pro115Leu
ENST00000334554.11:c.344C>T	ENSP00000334490.7:p.Pro115Leu
ENST00000405930.3:c.344C>T	ENSP00000384716.3:p.Pro115Leu
ENST00000436518.5:c.311C>T	ENSP00000412807.1:p.Pro104Leu
ENST00000468112.5:n.58-1022C>T
NM_001185024.1:c.344C>T	NP_001171953.1:p.Pro115Leu
NM_013373.3:c.344C>T	NP_037505.1:p.Pro115Leu
XM_006724239.2:c.344C>T	XP_006724302.1:p.Pro115Leu
NM_001185024.2:c.344C>T	NP_001171953.1:p.Pro115Leu
NM_013373.4:c.344C>T MANE Select	NP_037505.1:p.Pro115Leu