Canonical Allele Identifier: CA513691272

Gene: ZDHHC8

Linked Data

• dbSNP Id: rs1448246399
• gnomAD v2: 22-20127390-C-T
• gnomAD v3: 22-20139867-C-T
• gnomAD v4: 22-20139867-C-T
• MyVariant Identifiers: chr22:g.20127390C>T (hg19) ; chr22:g.20139867C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000022.11:g.20139867C>T , CM000684.2:g.20139867C>T	GRCh38
NC_000022.10:g.20127390C>T , CM000684.1:g.20127390C>T	GRCh37
NC_000022.9:g.18507390C>T	NCBI36
NG_021420.1:g.13027C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000334554.12:c.532C>T MANE Select	ENSP00000334490.7:p.Leu178=
ENST00000320602.11:c.384+232C>T	ENSP00000317804.7:n.384+232C>T
ENST00000334554.11:c.532C>T	ENSP00000334490.7:p.Leu178=
ENST00000405930.3:c.532C>T	ENSP00000384716.3:p.Leu178=
ENST00000436518.5:c.499C>T	ENSP00000412807.1:p.Leu167=
ENST00000468112.5:n.58-750C>T
NM_001185024.1:c.532C>T	NP_001171953.1:p.Leu178=
NM_013373.3:c.532C>T	NP_037505.1:p.Leu178=
XM_006724239.2:c.532C>T	XP_006724302.1:p.Leu178=
NM_001185024.2:c.532C>T	NP_001171953.1:p.Leu178=
NM_013373.4:c.532C>T MANE Select	NP_037505.1:p.Leu178=