Canonical Allele Identifier: CA393763646

Gene: KIF7

Linked Data

• ClinVar Variation Id: 427891
• ClinVar RCV Id: RCV000610998
• dbSNP Id: rs1555424505
• MyVariant Identifiers: chr15:g.90188271C>A (hg19) ; chr15:g.89645040C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89645040C>A , CM000677.2:g.89645040C>A	GRCh38
NC_000015.9:g.90188271C>A , CM000677.1:g.90188271C>A	GRCh37
NC_000015.8:g.87989275C>A	NCBI36
NG_030338.1:g.15412G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000696512.1:c.2287G>T	ENSP00000512678.1:p.Glu763Ter
ENST00000394412.8:c.2164G>T MANE Select	ENSP00000377934.3:p.Glu722Ter
ENST00000394412.7:c.2164G>T	ENSP00000377934.3:p.Glu722Ter
NM_198525.2:c.2164G>T	NP_940927.2:p.Glu722Ter
XM_005254902.2:c.2164G>T	XP_005254959.1:p.Glu722Ter
XM_011521531.1:c.2287G>T	XP_011519833.1:p.Glu763Ter
XM_011521532.1:c.2284G>T	XP_011519834.1:p.Glu762Ter
XM_011521533.1:c.2284G>T	XP_011519835.1:p.Glu762Ter
XM_011521534.1:c.2287G>T	XP_011519836.1:p.Glu763Ter
XM_011521535.1:c.2287G>T	XP_011519837.1:p.Glu763Ter
XM_011521536.1:c.2287G>T	XP_011519838.1:p.Glu763Ter
XM_011521537.1:c.2287G>T	XP_011519839.1:p.Glu763Ter
XM_011521531.2:c.2287G>T	XP_011519833.1:p.Glu763Ter
NM_198525.3:c.2164G>T MANE Select	NP_940927.2:p.Glu722Ter