Canonical Allele Identifier: CA366981767
Community Standard Title: NM_001031710.3(KLHL7):c.1229G>A (p.Trp410Ter)
Gene: KLHL7 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.23167887G>A , CM000669.2:g.23167887G>A GRCh38
NC_000007.13:g.23207506G>A , CM000669.1:g.23207506G>A GRCh37
NC_000007.12:g.23174031G>A NCBI36
NG_016983.1:g.67154G>A
NG_016983.2:g.67154G>A

Transcript Alleles

HGVS Amino-acid Change
NM_001031710.3:c.1229G>A MANE Select NP_001026880.2:p.Trp410Ter
ENST00000339077.10:c.1229G>A MANE Select ENSP00000343273.4:p.Trp410Ter
NM_001031710.2:c.1229G>A NP_001026880.2:p.Trp410Ter
NM_018846.4:c.1085G>A NP_061334.4:p.Trp362Ter
NM_018846.5:c.1085G>A NP_061334.4:p.Trp362Ter
NR_033328.1:n.1653G>A
NR_033328.2:n.1602G>A
ENST00000339077.9:c.1229G>A ENSP00000343273.4:p.Trp410Ter
ENST00000409689.5:c.1085G>A ENSP00000386263.1:p.Trp362Ter
ENST00000469576.1:n.116G>A
ENST00000521082.5:c.*1237G>A ENSP00000430351.1:n.*1237G>A
XM_006715753.1:c.1268G>A XP_006715816.1:p.Trp423Ter
XM_006715753.3:c.1268G>A XP_006715816.1:p.Trp423Ter
XM_006715754.1:c.1202G>A XP_006715817.1:p.Trp401Ter
XM_006715754.3:c.1202G>A XP_006715817.1:p.Trp401Ter
XM_006715755.1:c.1202G>A XP_006715818.1:p.Trp401Ter
XM_006715755.3:c.1202G>A XP_006715818.1:p.Trp401Ter
XM_006715756.1:c.1124G>A XP_006715819.1:p.Trp375Ter
XM_006715756.3:c.1124G>A XP_006715819.1:p.Trp375Ter
XM_017012439.2:c.1163G>A XP_016867928.1:p.Trp388Ter