Canonical Allele Identifier: CA128096946

Gene: KLHL3

Linked Data

• dbSNP Id: rs945974154
• gnomAD v4: 5-137627986-G-A
• MyVariant Identifiers: chr5:g.136963675G>A (hg19) ; chr5:g.137627986G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137627986G>A , CM000667.2:g.137627986G>A	GRCh38
NC_000005.9:g.136963675G>A , CM000667.1:g.136963675G>A	GRCh37
NC_000005.8:g.136991574G>A	NCBI36
NG_032569.1:g.113105C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+311C>T MANE Select	ENSP00000312397.4:n.1591+311C>T
ENST00000309755.8:c.1591+311C>T	ENSP00000312397.4:n.1591+311C>T
ENST00000447439.6:n.1647+311C>T
ENST00000504208.5:c.*475+311C>T	ENSP00000423585.1:n.*475+311C>T
ENST00000506491.5:c.1345+311C>T	ENSP00000424828.1:n.1345+311C>T
ENST00000506873.5:n.1114+311C>T
ENST00000508657.5:c.1495+311C>T	ENSP00000422099.1:n.1495+311C>T
ENST00000509694.1:n.622+73C>T
NM_001257194.1:c.1495+311C>T	NP_001244123.1:n.1495+311C>T
NM_001257195.1:c.1345+311C>T	NP_001244124.1:n.1345+311C>T
NM_017415.2:c.1591+311C>T	NP_059111.2:n.1591+311C>T
NM_017415.3:c.1591+311C>T MANE Select	NP_059111.2:n.1591+311C>T
NM_001257195.2:c.1345+311C>T	NP_001244124.1:n.1345+311C>T