Canonical Allele Identifier: CA128096945

Gene: KLHL3

Linked Data

• dbSNP Id: rs138334466
• gnomAD v2: 5-136963652-T-G
• gnomAD v3: 5-137627963-T-G
• gnomAD v4: 5-137627963-T-G
• MyVariant Identifiers: chr5:g.136963652T>G (hg19) ; chr5:g.137627963T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137627963T>G , CM000667.2:g.137627963T>G	GRCh38
NC_000005.9:g.136963652T>G , CM000667.1:g.136963652T>G	GRCh37
NC_000005.8:g.136991551T>G	NCBI36
NG_032569.1:g.113128A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1591+334A>C MANE Select	ENSP00000312397.4:n.1591+334A>C
ENST00000309755.8:c.1591+334A>C	ENSP00000312397.4:n.1591+334A>C
ENST00000447439.6:n.1647+334A>C
ENST00000504208.5:c.*475+334A>C	ENSP00000423585.1:n.*475+334A>C
ENST00000506491.5:c.1345+334A>C	ENSP00000424828.1:n.1345+334A>C
ENST00000506873.5:n.1114+334A>C
ENST00000508657.5:c.1495+334A>C	ENSP00000422099.1:n.1495+334A>C
ENST00000509694.1:n.622+96A>C
NM_001257194.1:c.1495+334A>C	NP_001244123.1:n.1495+334A>C
NM_001257195.1:c.1345+334A>C	NP_001244124.1:n.1345+334A>C
NM_017415.2:c.1591+334A>C	NP_059111.2:n.1591+334A>C
NM_017415.3:c.1591+334A>C MANE Select	NP_059111.2:n.1591+334A>C
NM_001257195.2:c.1345+334A>C	NP_001244124.1:n.1345+334A>C