Canonical Allele Identifier: CA433210992
Gene: KLHL40 HGNC NCBI

Linked Data

dbSNP Id: rs1425339561
gnomAD v3: 3-42688231-C-T
gnomAD v4: 3-42688231-C-T
MyVariant Identifiers: chr3:g.42729723C>T (hg19) chr3:g.42688231C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000003.12:g.42688231C>T , CM000665.2:g.42688231C>T GRCh38
NC_000003.11:g.42729723C>T , CM000665.1:g.42729723C>T GRCh37
NC_000003.10:g.42704727C>T NCBI36
NG_033035.1:g.7713C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000287777.5:c.1242C>T MANE Select ENSP00000287777.4:p.Ile414=
ENST00000287777.4:c.1242C>T ENSP00000287777.4:p.Ile414=
NM_152393.3:c.1242C>T NP_689606.2:p.Ile414=
XM_005264866.2:c.1242C>T XP_005264923.1:p.Ile414=
NM_152393.4:c.1242C>T MANE Select NP_689606.2:p.Ile414=
Search 100 bp 5'
Search 100 bp 3'