Canonical Allele Identifier: CA128104075

Gene: KLHL3

Linked Data

• dbSNP Id: rs907810573
• gnomAD v3: 5-137639250-G-A
• gnomAD v4: 5-137639250-G-A
• MyVariant Identifiers: chr5:g.136974939G>A (hg19) ; chr5:g.137639250G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.137639250G>A , CM000667.2:g.137639250G>A	GRCh38
NC_000005.9:g.136974939G>A , CM000667.1:g.136974939G>A	GRCh37
NC_000005.8:g.137002838G>A	NCBI36
NG_032569.1:g.101841C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000309755.9:c.1022-100C>T MANE Select	ENSP00000312397.4:n.1022-100C>T
ENST00000309755.8:c.1022-100C>T	ENSP00000312397.4:n.1022-100C>T
ENST00000502381.1:n.609-100C>T
ENST00000504208.5:c.*335-10813C>T	ENSP00000423585.1:n.*335-10813C>T
ENST00000505853.1:c.902-100C>T	ENSP00000426173.1:n.902-100C>T
ENST00000506491.5:c.776-100C>T	ENSP00000424828.1:n.776-100C>T
ENST00000506873.5:n.647-100C>T
ENST00000508657.5:c.926-100C>T	ENSP00000422099.1:n.926-100C>T
NM_001257194.1:c.926-100C>T	NP_001244123.1:n.926-100C>T
NM_001257195.1:c.776-100C>T	NP_001244124.1:n.776-100C>T
NM_017415.2:c.1022-100C>T	NP_059111.2:n.1022-100C>T
NM_017415.3:c.1022-100C>T MANE Select	NP_059111.2:n.1022-100C>T
NM_001257195.2:c.776-100C>T	NP_001244124.1:n.776-100C>T