Canonical Allele Identifier: CA10586690

Gene: KIAA0753

Linked Data

• ClinVar Variation Id: 254662
• ClinVar RCV Id: RCV000241537 ; RCV002305474 ; RCV003225055
• dbSNP Id: rs886038201
• gnomAD v2: 17-6513483-G-T
• gnomAD v3: 17-6610163-G-T
• gnomAD v4: 17-6610163-G-T
• MyVariant Identifiers: chr17:g.6513483G>T (hg19) ; chr17:g.6610163G>T (hg38)
• PubMed: PMID:26643951

Genomic Alleles

HGVS	Genome Assembly
NC_000017.11:g.6610163G>T , CM000679.2:g.6610163G>T	GRCh38
NC_000017.10:g.6513483G>T , CM000679.1:g.6513483G>T	GRCh37
NC_000017.9:g.6454207G>T	NCBI36
NG_054885.1:g.35765C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000634965.3:c.*2496-3C>A	ENSP00000499350.1:n.*2496-3C>A
ENST00000361413.8:c.1546-3C>A MANE Select	ENSP00000355250.3:n.1546-3C>A
ENST00000361413.7:c.1546-3C>A	ENSP00000355250.3:n.1546-3C>A
ENST00000542826.6:c.121-3C>A
ENST00000570790.5:c.*692-3C>A	ENSP00000460816.1:n.*692-3C>A
ENST00000572370.5:c.649-3C>A	ENSP00000460050.1:n.649-3C>A
NM_014804.2:c.1546-3C>A	NP_055619.2:n.1546-3C>A
XM_006721611.1:c.1546-3C>A	XP_006721674.1:n.1546-3C>A
XM_006721612.1:c.649-3C>A	XP_006721675.1:n.649-3C>A
XM_011524090.1:c.1546-3C>A	XP_011522392.1:n.1546-3C>A
XM_011524091.1:c.1546-3C>A	XP_011522393.1:n.1546-3C>A
XM_011524092.1:c.1546-3C>A	XP_011522394.1:n.1546-3C>A
XM_011524093.1:c.1546-3C>A	XP_011522395.1:n.1546-3C>A
XM_011524094.1:c.1546-3C>A	XP_011522396.1:n.1546-3C>A
XM_011524095.1:c.1546-3C>A	XP_011522397.1:n.1546-3C>A
XM_011524096.1:c.1546-3C>A	XP_011522398.1:n.1546-3C>A
XM_011524097.1:c.1546-3C>A	XP_011522399.1:n.1546-3C>A
XM_011524098.1:c.649-3C>A	XP_011522400.1:n.649-3C>A
XM_011524099.1:c.649-3C>A	XP_011522401.1:n.649-3C>A
XM_011524100.1:c.649-3C>A	XP_011522402.1:n.649-3C>A
XR_934126.1:n.1905-3C>A
NM_001351225.1:c.649-3C>A	NP_001338154.1:n.649-3C>A
NR_147086.1:n.1568-3C>A
NR_147087.1:n.1905-3C>A
NR_147088.1:n.2012-3C>A
XM_006721612.2:c.649-3C>A	XP_006721675.1:n.649-3C>A
XM_011524090.3:c.1546-3C>A	XP_011522392.1:n.1546-3C>A
XM_011524091.2:c.1546-3C>A	XP_011522393.1:n.1546-3C>A
XM_011524095.2:c.1546-3C>A	XP_011522397.1:n.1546-3C>A
XM_011524096.2:c.1546-3C>A	XP_011522398.1:n.1546-3C>A
XM_011524098.2:c.649-3C>A	XP_011522400.1:n.649-3C>A
XM_011524099.2:c.649-3C>A	XP_011522401.1:n.649-3C>A
XM_011524100.3:c.649-3C>A	XP_011522402.1:n.649-3C>A
XM_017025455.2:c.1546-3C>A	XP_016880944.1:n.1546-3C>A
XR_001752707.2:n.1708-3C>A
XR_001752708.2:n.1708-3C>A
XR_001752709.2:n.1708-3C>A
XR_934126.2:n.1708-3C>A
NM_014804.3:c.1546-3C>A MANE Select	NP_055619.2:n.1546-3C>A
NM_001351225.2:c.649-3C>A	NP_001338154.1:n.649-3C>A
NR_147086.2:n.1352-3C>A
NR_147087.2:n.1689-3C>A
NR_147088.2:n.1796-3C>A