Canonical Allele Identifier: CA4736346

Gene: POMK

Linked Data

• ClinVar Variation Id: 706865
• ClinVar RCV Id: RCV000877623
• dbSNP Id: rs142479040
• ExAC: 8:42977699 C / T
• gnomAD v2: 8-42977699-C-T
• gnomAD v3: 8-43122556-C-T
• gnomAD v4: 8-43122556-C-T
• COSMIC: COSM328229
• MyVariant Identifiers: chr8:g.42977699C>T (hg19) ; chr8:g.43122556C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000008.11:g.43122556C>T , CM000670.2:g.43122556C>T	GRCh38
NC_000008.10:g.42977699C>T , CM000670.1:g.42977699C>T	GRCh37
NC_000008.9:g.43096856C>T	NCBI36
NG_033235.1:g.34051C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000331373.10:c.732C>T MANE Select	ENSP00000331258.5:p.Cys244=
ENST00000614426.2:c.*528C>T	ENSP00000478821.2:n.*528C>T
ENST00000674646.1:c.450C>T	ENSP00000501703.1:p.Cys150=
ENST00000674676.1:c.450C>T	ENSP00000502544.1:p.Cys150=
ENST00000674782.1:c.*652C>T	ENSP00000501683.1:n.*652C>T
ENST00000674937.1:c.690C>T	ENSP00000501823.1:p.Cys230=
ENST00000675322.1:c.450C>T	ENSP00000502235.1:p.Cys150=
ENST00000675675.1:c.450C>T	ENSP00000501793.1:p.Cys150=
ENST00000676178.1:c.*517C>T	ENSP00000502007.1:n.*517C>T
ENST00000676193.1:c.732C>T	ENSP00000502774.1:p.Cys244=
ENST00000331373.9:c.732C>T	ENSP00000331258.5:p.Cys244=
ENST00000614426.1:c.732C>T	ENSP00000478821.1:p.Cys244=
NM_001277971.1:c.732C>T	NP_001264900.1:p.Cys244=
NM_032237.4:c.732C>T	NP_115613.1:p.Cys244=
XM_011544668.1:c.732C>T	XP_011542970.1:p.Cys244=
XM_011544669.1:c.732C>T	XP_011542971.1:p.Cys244=
NM_032237.5:c.732C>T MANE Select	NP_115613.1:p.Cys244=
NM_001277971.2:c.732C>T	NP_001264900.1:p.Cys244=