Canonical Allele Identifier: CA356657041

Gene: KLB

Linked Data

• MyVariant Identifiers: chr4:g.39448352C>G (hg19) ; chr4:g.39446732C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446732C>G , CM000666.2:g.39446732C>G	GRCh38
NC_000004.11:g.39448352C>G , CM000666.1:g.39448352C>G	GRCh37
NC_000004.10:g.39124747C>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2006C>G MANE Select	ENSP00000257408.4:p.Ala669Gly
ENST00000257408.4:c.2006C>G	ENSP00000257408.4:p.Ala669Gly
NM_175737.3:c.2006C>G	NP_783864.1:p.Ala669Gly
XM_005262644.1:c.1979C>G	XP_005262701.1:p.Ala660Gly
NM_175737.4:c.2006C>G MANE Select	NP_783864.1:p.Ala669Gly