Canonical Allele Identifier: CA115554

Gene: KIF21A

Linked Data

• ClinVar Variation Id: 2436
• ClinVar RCV Id: RCV000002538 ; RCV000002539 ; RCV000267056 ; RCV003398420
• dbSNP Id: rs121912585
• gnomAD v4: 12-39332405-G-A
• MyVariant Identifiers: chr12:g.39726207G>A (hg19) ; chr12:g.39332405G>A (hg38)
• PubMed: PMID:14595441 ; PMID:15621876 ; PMID:15621877 ; PMID:15827546 ; PMID:19551685 ; PMID:20301522

Genomic Alleles

HGVS	Genome Assembly
NC_000012.12:g.39332405G>A , CM000674.2:g.39332405G>A	GRCh38
NC_000012.11:g.39726207G>A , CM000674.1:g.39726207G>A	GRCh37
NC_000012.10:g.38012474G>A	NCBI36
NG_017067.1:g.115986C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000361418.10:c.2860C>T MANE Select	ENSP00000354878.5:p.Arg954Trp
ENST00000636569.1:c.2794C>T	ENSP00000490369.1:p.Arg932Trp
ENST00000361418.9:c.2860C>T	ENSP00000354878.5:p.Arg954Trp
ENST00000361961.7:c.2821C>T	ENSP00000354851.3:p.Arg941Trp
ENST00000541463.6:c.2752C>T	ENSP00000438075.2:p.Arg918Trp
ENST00000544797.6:c.2821C>T	ENSP00000445606.2:p.Arg941Trp
ENST00000547108.5:c.633C>T
ENST00000551264.5:c.4C>T	ENSP00000448792.1:p.Arg2Trp
ENST00000552961.5:c.903C>T
NM_001173463.1:c.2821C>T	NP_001166934.1:p.Arg941Trp
NM_001173464.1:c.2860C>T	NP_001166935.1:p.Arg954Trp
NM_001173465.1:c.2752C>T	NP_001166936.1:p.Arg918Trp
NM_017641.3:c.2821C>T	NP_060111.2:p.Arg941Trp
XM_005269007.1:c.2860C>T	XP_005269064.1:p.Arg954Trp
XM_005269008.1:c.2860C>T	XP_005269065.1:p.Arg954Trp
XM_005269009.1:c.2860C>T	XP_005269066.1:p.Arg954Trp
XM_005269010.1:c.2821C>T	XP_005269067.1:p.Arg941Trp
XM_005269011.1:c.2860C>T	XP_005269068.1:p.Arg954Trp
XM_005269012.1:c.2860C>T	XP_005269069.1:p.Arg954Trp
XM_005269013.1:c.2860C>T	XP_005269070.1:p.Arg954Trp
XM_005269014.1:c.2860C>T	XP_005269071.1:p.Arg954Trp
XM_006719493.1:c.2821C>T	XP_006719556.1:p.Arg941Trp
XM_006719494.1:c.2860C>T	XP_006719557.1:p.Arg954Trp
XM_006719496.1:c.2821C>T	XP_006719559.1:p.Arg941Trp
XM_011538556.1:c.2791C>T	XP_011536858.1:p.Arg931Trp
XR_429108.1:n.3192C>T
XM_005269007.3:c.2860C>T	XP_005269064.1:p.Arg954Trp
XM_005269008.3:c.2860C>T	XP_005269065.1:p.Arg954Trp
XM_005269009.3:c.2860C>T	XP_005269066.1:p.Arg954Trp
XM_005269010.3:c.2821C>T	XP_005269067.1:p.Arg941Trp
XM_005269011.3:c.2860C>T	XP_005269068.1:p.Arg954Trp
XM_005269012.3:c.2860C>T	XP_005269069.1:p.Arg954Trp
XM_005269013.3:c.2860C>T	XP_005269070.1:p.Arg954Trp
XM_005269014.3:c.2860C>T	XP_005269071.1:p.Arg954Trp
XM_006719493.3:c.2821C>T	XP_006719556.1:p.Arg941Trp
XM_006719494.3:c.2860C>T	XP_006719557.1:p.Arg954Trp
XM_011538556.3:c.2791C>T	XP_011536858.1:p.Arg931Trp
XM_017019607.2:c.2821C>T	XP_016875096.1:p.Arg941Trp
XM_017019608.2:c.2821C>T	XP_016875097.1:p.Arg941Trp
XM_017019609.2:c.2821C>T	XP_016875098.1:p.Arg941Trp
XM_017019610.2:c.2860C>T	XP_016875099.1:p.Arg954Trp
XM_017019611.2:c.2821C>T	XP_016875100.1:p.Arg941Trp
NM_001173463.2:c.2821C>T	NP_001166934.1:p.Arg941Trp
NM_001173464.2:c.2860C>T MANE Select	NP_001166935.1:p.Arg954Trp
NM_001173465.2:c.2752C>T	NP_001166936.1:p.Arg918Trp
NM_017641.4:c.2821C>T	NP_060111.2:p.Arg941Trp
NM_001378439.1:c.2860C>T	NP_001365368.1:p.Arg954Trp
NM_001378440.1:c.2860C>T	NP_001365369.1:p.Arg954Trp
NM_001378441.1:c.2821C>T	NP_001365370.1:p.Arg941Trp