Canonical Allele Identifier: CA356657696

Gene: KLB

Linked Data

• dbSNP Id: rs1201071304
• gnomAD v2: 4-39448620-G-C
• gnomAD v4: 4-39447000-G-C
• MyVariant Identifiers: chr4:g.39448620G>C (hg19) ; chr4:g.39447000G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39447000G>C , CM000666.2:g.39447000G>C	GRCh38
NC_000004.11:g.39448620G>C , CM000666.1:g.39448620G>C	GRCh37
NC_000004.10:g.39125015G>C	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2274G>C MANE Select	ENSP00000257408.4:p.Trp758Cys
ENST00000257408.4:c.2274G>C	ENSP00000257408.4:p.Trp758Cys
NM_175737.3:c.2274G>C	NP_783864.1:p.Trp758Cys
XM_005262644.1:c.2247G>C	XP_005262701.1:p.Trp749Cys
NM_175737.4:c.2274G>C MANE Select	NP_783864.1:p.Trp758Cys