Canonical Allele Identifier: CA95711752

Gene: KLB

Linked Data

• ClinVar Variation Id: 3115200
• ClinVar RCV Id: RCV004406518
• dbSNP Id: rs765644764
• gnomAD v2: 4-39448363-T-A
• gnomAD v3: 4-39446743-T-A
• gnomAD v4: 4-39446743-T-A
• MyVariant Identifiers: chr4:g.39448363T>A (hg19) ; chr4:g.39446743T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446743T>A , CM000666.2:g.39446743T>A	GRCh38
NC_000004.11:g.39448363T>A , CM000666.1:g.39448363T>A	GRCh37
NC_000004.10:g.39124758T>A	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2017T>A MANE Select	ENSP00000257408.4:p.Tyr673Asn
ENST00000257408.4:c.2017T>A	ENSP00000257408.4:p.Tyr673Asn
NM_175737.3:c.2017T>A	NP_783864.1:p.Tyr673Asn
XM_005262644.1:c.1990T>A	XP_005262701.1:p.Tyr664Asn
NM_175737.4:c.2017T>A MANE Select	NP_783864.1:p.Tyr673Asn