Canonical Allele Identifier: CA393756901

Gene: KIF7

Linked Data

• dbSNP Id: rs774368580
• gnomAD v3: 15-89631537-C-G
• gnomAD v4: 15-89631537-C-G
• MyVariant Identifiers: chr15:g.90174768C>G (hg19) ; chr15:g.89631537C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000015.10:g.89631537C>G , CM000677.2:g.89631537C>G	GRCh38
NC_000015.9:g.90174768C>G , CM000677.1:g.90174768C>G	GRCh37
NC_000015.8:g.87975772C>G	NCBI36
NG_030338.1:g.28915G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000696512.1:c.3192G>C	ENSP00000512678.1:p.Glu1064Asp
ENST00000394412.8:c.3069G>C MANE Select	ENSP00000377934.3:p.Glu1023Asp
ENST00000677187.1:n.743G>C
ENST00000394412.7:c.3069G>C	ENSP00000377934.3:p.Glu1023Asp
NM_198525.2:c.3069G>C	NP_940927.2:p.Glu1023Asp
XM_005254902.2:c.3069G>C	XP_005254959.1:p.Glu1023Asp
XM_011521531.1:c.3192G>C	XP_011519833.1:p.Glu1064Asp
XM_011521532.1:c.3189G>C	XP_011519834.1:p.Glu1063Asp
XM_011521533.1:c.3189G>C	XP_011519835.1:p.Glu1063Asp
XM_011521534.1:c.3192G>C	XP_011519836.1:p.Glu1064Asp
XM_011521535.1:c.3192G>C	XP_011519837.1:p.Glu1064Asp
XM_011521536.1:c.3192G>C	XP_011519838.1:p.Glu1064Asp
XM_011521531.2:c.3192G>C	XP_011519833.1:p.Glu1064Asp
NM_198525.3:c.3069G>C MANE Select	NP_940927.2:p.Glu1023Asp