Canonical Allele Identifier: CA020385

Gene: KIF7 TICRR

Linked Data

• ClinVar Variation Id: 194998
• ClinVar RCV Id: RCV000175496 ; RCV000302149 ; RCV002516679
• dbSNP Id: rs138993311
• ExAC: 15:90171768 C / T
• gnomAD v2: 15-90171768-C-T
• gnomAD v3: 15-89628537-C-T
• gnomAD v4: 15-89628537-C-T
• MyVariant Identifiers: chr15:g.90171768C>T (hg19) ; chr15:g.89628537C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89628537C>T , CM000677.2:g.89628537C>T	GRCh38
NC_000015.9:g.90171768C>T , CM000677.1:g.90171768C>T	GRCh37
NC_000015.8:g.87972772C>T	NCBI36
NG_030338.1:g.31915G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.4037G>A (KIF7)	ENSP00000512678.1:p.Arg1346Gln
ENST00000394412.8:c.3914G>A (KIF7) MANE Select	ENSP00000377934.3:p.Arg1305Gln
ENST00000677187.1:n.1588G>A (KIF7)
ENST00000394412.7:c.3914G>A (KIF7)	ENSP00000377934.3:p.Arg1305Gln
ENST00000558928.1:n.180+64G>A (KIF7)
ENST00000561095.1:c.741-893C>T (TICRR)
NM_198525.2:c.3914G>A (KIF7)	NP_940927.2:p.Arg1305Gln
XM_005254902.2:c.3914G>A (KIF7)	XP_005254959.1:p.Arg1305Gln
XM_011521531.1:c.4037G>A (KIF7)	XP_011519833.1:p.Arg1346Gln
XM_011521532.1:c.4034G>A (KIF7)	XP_011519834.1:p.Arg1345Gln
XM_011521533.1:c.4034G>A (KIF7)	XP_011519835.1:p.Arg1345Gln
XM_011521534.1:c.3973+64G>A (KIF7)	XP_011519836.1:n.3973+64G>A
XM_011521535.1:c.3973+64G>A (KIF7)	XP_011519837.1:n.3973+64G>A
XM_011521536.1:c.3973+64G>A (KIF7)	XP_011519838.1:n.3973+64G>A
XM_011521531.2:c.4037G>A (KIF7)	XP_011519833.1:p.Arg1346Gln
NM_198525.3:c.3914G>A (KIF7) MANE Select	NP_940927.2:p.Arg1305Gln