Canonical Allele Identifier: CA2893924

Gene: KLB

Linked Data

• ClinVar Variation Id: 2342584
• ClinVar RCV Id: RCV004183613
• dbSNP Id: rs141638078
• ExAC: 4:39448345 G / A
• gnomAD v2: 4-39448345-G-A
• gnomAD v3: 4-39446725-G-A
• gnomAD v4: 4-39446725-G-A
• MyVariant Identifiers: chr4:g.39448345G>A (hg19) ; chr4:g.39448345_39448346delinsAC (hg19) ; chr4:g.39446725G>A (hg38) ; chr4:g.39446725_39446726delinsAC (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446725G>A , CM000666.2:g.39446725G>A	GRCh38
NC_000004.11:g.39448345G>A , CM000666.1:g.39448345G>A	GRCh37
NC_000004.10:g.39124740G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.1999G>A MANE Select	ENSP00000257408.4:p.Ala667Thr
ENST00000257408.4:c.1999G>A	ENSP00000257408.4:p.Ala667Thr
NM_175737.3:c.1999G>A	NP_783864.1:p.Ala667Thr
XM_005262644.1:c.1972G>A	XP_005262701.1:p.Ala658Thr
NM_175737.4:c.1999G>A MANE Select	NP_783864.1:p.Ala667Thr