Canonical Allele Identifier: CA246607

Gene: CERKL

Linked Data

• ClinVar Variation Id: 198113
• ClinVar RCV Id: RCV000179358 ; RCV000355534 ; RCV000625302
• dbSNP Id: rs189638090
• ExAC: 2:182423284 C / T
• gnomAD v2: 2-182423284-C-T
• gnomAD v3: 2-181558557-C-T
• gnomAD v4: 2-181558557-C-T
• MyVariant Identifiers: chr2:g.182423284C>T (hg19) ; chr2:g.181558557C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.181558557C>T , CM000664.2:g.181558557C>T	GRCh38
NC_000002.11:g.182423284C>T , CM000664.1:g.182423284C>T	GRCh37
NC_000002.10:g.182131529C>T	NCBI36
NG_021178.1:g.103551G>A
NG_021178.2:g.103551G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000684145.1:c.64+9G>A	ENSP00000508396.1:n.64+9G>A
ENST00000410087.8:c.820+9G>A MANE Select	ENSP00000386725.3:n.820+9G>A
ENST00000339098.9:c.898+9G>A	ENSP00000341159.5:n.898+9G>A
ENST00000374967.6:c.756+9G>A	ENSP00000364106.2:n.756+9G>A
ENST00000374969.6:c.482-8849G>A	ENSP00000364108.2:n.482-8849G>A
ENST00000374970.6:c.614-8849G>A	ENSP00000364109.2:n.614-8849G>A
ENST00000409440.7:c.766+9G>A	ENSP00000387080.3:n.766+9G>A
ENST00000410087.7:c.820+9G>A	ENSP00000386725.3:n.820+9G>A
ENST00000421817.5:c.*102+9G>A	ENSP00000411466.1:n.*102+9G>A
ENST00000452174.5:c.624+9G>A	ENSP00000409198.1:n.624+9G>A
ENST00000479558.5:n.818+9G>A
ENST00000494398.5:n.820+9G>A
NM_001030311.2:c.898+9G>A	NP_001025482.1:n.898+9G>A
NM_001030312.2:c.482-8849G>A	NP_001025483.1:n.482-8849G>A
NM_001030313.2:c.614-8849G>A	NP_001025484.1:n.614-8849G>A
NM_001160277.1:c.766+9G>A	NP_001153749.1:n.766+9G>A
NM_201548.4:c.820+9G>A	NP_963842.1:n.820+9G>A
NR_027689.1:n.725+9G>A
NR_027690.1:n.857+9G>A
NM_201548.5:c.820+9G>A MANE Select	NP_963842.1:n.820+9G>A
NM_001030311.3:c.898+9G>A	NP_001025482.1:n.898+9G>A
NM_001030312.3:c.482-8849G>A	NP_001025483.1:n.482-8849G>A
NM_001030313.3:c.614-8849G>A	NP_001025484.1:n.614-8849G>A
NM_001160277.2:c.766+9G>A	NP_001153749.1:n.766+9G>A
NR_027689.2:n.723+9G>A
NR_027690.2:n.855+9G>A