Canonical Allele Identifier: CA383237914

Gene: KIRREL3 ST3GAL4

Linked Data

• gnomAD v4: 11-126446884-C-A
• MyVariant Identifiers: chr11:g.126316779C>A (hg19) ; chr11:g.126446884C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000011.10:g.126446884C>A , CM000673.2:g.126446884C>A	GRCh38
NC_000011.9:g.126316779C>A , CM000673.1:g.126316779C>A	GRCh37
NC_000011.8:g.125821989C>A	NCBI36
NG_012971.1:g.558988G>T
NG_053025.1:g.96240C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000525144.7:c.1000G>T (KIRREL3) MANE Select	ENSP00000435466.2:p.Gly334Trp
ENST00000416561.6:c.877G>T (KIRREL3)	ENSP00000408692.3:p.Gly293Trp
ENST00000525144.6:c.1000G>T (KIRREL3)	ENSP00000435466.2:p.Gly334Trp
ENST00000525704.2:c.1000G>T (KIRREL3)	ENSP00000435094.2:p.Gly334Trp
ENST00000529097.6:c.1000G>T (KIRREL3)	ENSP00000434081.2:p.Gly334Trp
NM_001161707.1:c.1000G>T (KIRREL3)	NP_001155179.1:p.Gly334Trp
NM_001301097.1:c.1000G>T (KIRREL3)	NP_001288026.1:p.Gly334Trp
NM_032531.3:c.1000G>T (KIRREL3)	NP_115920.1:p.Gly334Trp
XM_011542959.1:c.905+6565C>A (ST3GAL4)	XP_011541261.1:n.905+6565C>A
XM_011542960.1:c.905+6565C>A (ST3GAL4)	XP_011541262.1:n.905+6565C>A
XM_011542961.1:c.970-5717C>A (ST3GAL4)	XP_011541263.1:n.970-5717C>A
XM_011542962.1:c.969+6501C>A (ST3GAL4)	XP_011541264.1:n.969+6501C>A
XM_011543026.1:c.1018G>T (KIRREL3)	XP_011541328.1:p.Gly340Trp
XM_011543027.1:c.1000G>T (KIRREL3)	XP_011541329.1:p.Gly334Trp
XM_011543028.1:c.1000G>T (KIRREL3)	XP_011541330.1:p.Gly334Trp
XM_011543029.1:c.1000G>T (KIRREL3)	XP_011541331.1:p.Gly334Trp
XM_011543030.1:c.1018G>T (KIRREL3)	XP_011541332.1:p.Gly340Trp
XM_011543031.1:c.1000G>T (KIRREL3)	XP_011541333.1:p.Gly334Trp
XM_011543032.1:c.1018G>T (KIRREL3)	XP_011541334.1:p.Gly340Trp
XM_011543033.1:c.1000G>T (KIRREL3)	XP_011541335.1:p.Gly334Trp
XM_011543034.1:c.433G>T (KIRREL3)	XP_011541336.1:p.Gly145Trp
XM_011543026.2:c.1018G>T (KIRREL3)	XP_011541328.1:p.Gly340Trp
XM_011543027.2:c.1000G>T (KIRREL3)	XP_011541329.1:p.Gly334Trp
XM_011543028.2:c.1000G>T (KIRREL3)	XP_011541330.1:p.Gly334Trp
XM_011543030.3:c.1018G>T (KIRREL3)	XP_011541332.1:p.Gly340Trp
XM_011543031.2:c.1000G>T (KIRREL3)	XP_011541333.1:p.Gly334Trp
XM_011543032.3:c.1018G>T (KIRREL3)	XP_011541334.1:p.Gly340Trp
XM_017018419.1:c.1000G>T (KIRREL3)	XP_016873908.1:p.Gly334Trp
XM_017018420.1:c.1000G>T (KIRREL3)	XP_016873909.1:p.Gly334Trp
NM_032531.4:c.1000G>T (KIRREL3) MANE Select	NP_115920.1:p.Gly334Trp