Canonical Allele Identifier: CA16619291

Gene: KIRREL3 ST3GAL4

Linked Data

• ClinVar Variation Id: 422138
• ClinVar RCV Id: RCV000487122
• dbSNP Id: rs1064795581
• MyVariant Identifiers: chr11:g.126318903C>T (hg19) ; chr11:g.126449008C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126449008C>T , CM000673.2:g.126449008C>T	GRCh38
NC_000011.9:g.126318903C>T , CM000673.1:g.126318903C>T	GRCh37
NC_000011.8:g.125824113C>T	NCBI36
NG_012971.1:g.556864G>A
NG_053025.1:g.98364C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525144.7:c.997+1G>A (KIRREL3) MANE Select	ENSP00000435466.2:n.997+1G>A
ENST00000416561.6:c.874+1G>A (KIRREL3)	ENSP00000408692.3:n.874+1G>A
ENST00000525144.6:c.997+1G>A (KIRREL3)	ENSP00000435466.2:n.997+1G>A
ENST00000525704.2:c.997+1G>A (KIRREL3)	ENSP00000435094.2:n.997+1G>A
ENST00000529097.6:c.997+1G>A (KIRREL3)	ENSP00000434081.2:n.997+1G>A
NM_001161707.1:c.997+1G>A (KIRREL3)	NP_001155179.1:n.997+1G>A
NM_001301097.1:c.997+1G>A (KIRREL3)	NP_001288026.1:n.997+1G>A
NM_032531.3:c.997+1G>A (KIRREL3)	NP_115920.1:n.997+1G>A
XM_011542959.1:c.906-6119C>T (ST3GAL4)	XP_011541261.1:n.906-6119C>T
XM_011542960.1:c.906-6119C>T (ST3GAL4)	XP_011541262.1:n.906-6119C>T
XM_011542961.1:c.970-3593C>T (ST3GAL4)	XP_011541263.1:n.970-3593C>T
XM_011542962.1:c.969+8625C>T (ST3GAL4)	XP_011541264.1:n.969+8625C>T
XM_011543026.1:c.1015+1G>A (KIRREL3)	XP_011541328.1:n.1015+1G>A
XM_011543027.1:c.997+1G>A (KIRREL3)	XP_011541329.1:n.997+1G>A
XM_011543028.1:c.997+1G>A (KIRREL3)	XP_011541330.1:n.997+1G>A
XM_011543029.1:c.997+1G>A (KIRREL3)	XP_011541331.1:n.997+1G>A
XM_011543030.1:c.1015+1G>A (KIRREL3)	XP_011541332.1:n.1015+1G>A
XM_011543031.1:c.997+1G>A (KIRREL3)	XP_011541333.1:n.997+1G>A
XM_011543032.1:c.1015+1G>A (KIRREL3)	XP_011541334.1:n.1015+1G>A
XM_011543033.1:c.997+1G>A (KIRREL3)	XP_011541335.1:n.997+1G>A
XM_011543034.1:c.430+1G>A (KIRREL3)	XP_011541336.1:n.430+1G>A
XM_011543026.2:c.1015+1G>A (KIRREL3)	XP_011541328.1:n.1015+1G>A
XM_011543027.2:c.997+1G>A (KIRREL3)	XP_011541329.1:n.997+1G>A
XM_011543028.2:c.997+1G>A (KIRREL3)	XP_011541330.1:n.997+1G>A
XM_011543030.3:c.1015+1G>A (KIRREL3)	XP_011541332.1:n.1015+1G>A
XM_011543031.2:c.997+1G>A (KIRREL3)	XP_011541333.1:n.997+1G>A
XM_011543032.3:c.1015+1G>A (KIRREL3)	XP_011541334.1:n.1015+1G>A
XM_017018419.1:c.997+1G>A (KIRREL3)	XP_016873908.1:n.997+1G>A
XM_017018420.1:c.997+1G>A (KIRREL3)	XP_016873909.1:n.997+1G>A
NM_032531.4:c.997+1G>A (KIRREL3) MANE Select	NP_115920.1:n.997+1G>A