Canonical Allele Identifier: CA020398

Gene: KIF7 TICRR

Linked Data

• ClinVar Variation Id: 194996
• ClinVar RCV Id: RCV000175494 ; RCV001083648 ; RCV001252540 ; RCV003895188
• dbSNP Id: rs145726393
• ExAC: 15:90171684 G / T
• gnomAD v2: 15-90171684-G-T
• gnomAD v3: 15-89628453-G-T
• gnomAD v4: 15-89628453-G-T
• MyVariant Identifiers: chr15:g.90171684G>T (hg19) ; chr15:g.90171684_90171696delinsTGGCTGGCTCGTC (hg19) ; chr15:g.89628453G>T (hg38) ; chr15:g.89628453_89628465delinsTGGCTGGCTCGTC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89628453G>T , CM000677.2:g.89628453G>T	GRCh38
NC_000015.9:g.90171684G>T , CM000677.1:g.90171684G>T	GRCh37
NC_000015.8:g.87972688G>T	NCBI36
NG_030338.1:g.31999C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.4121C>A (KIF7)	ENSP00000512678.1:p.Pro1374Gln
ENST00000394412.8:c.3998C>A (KIF7) MANE Select	ENSP00000377934.3:p.Pro1333Gln
ENST00000677187.1:n.1672C>A (KIF7)
ENST00000394412.7:c.3998C>A (KIF7)	ENSP00000377934.3:p.Pro1333Gln
ENST00000558928.1:n.180+148C>A (KIF7)
ENST00000561095.1:c.741-977G>T (TICRR)
NM_198525.2:c.3998C>A (KIF7)	NP_940927.2:p.Pro1333Gln
XM_005254902.2:c.3998C>A (KIF7)	XP_005254959.1:p.Pro1333Gln
XM_011521531.1:c.4121C>A (KIF7)	XP_011519833.1:p.Pro1374Gln
XM_011521532.1:c.4118C>A (KIF7)	XP_011519834.1:p.Pro1373Gln
XM_011521533.1:c.4118C>A (KIF7)	XP_011519835.1:p.Pro1373Gln
XM_011521534.1:c.3973+148C>A (KIF7)	XP_011519836.1:n.3973+148C>A
XM_011521535.1:c.3973+148C>A (KIF7)	XP_011519837.1:n.3973+148C>A
XM_011521536.1:c.3973+148C>A (KIF7)	XP_011519838.1:n.3973+148C>A
XM_011521531.2:c.4121C>A (KIF7)	XP_011519833.1:p.Pro1374Gln
NM_198525.3:c.3998C>A (KIF7) MANE Select	NP_940927.2:p.Pro1333Gln