Canonical Allele Identifier: CA2893940

Gene: KLB

Linked Data

• ClinVar Variation Id: 2912075
• ClinVar RCV Id: RCV003738721 ; RCV004374281
• dbSNP Id: rs746695765
• ExAC: 4:39448450 A / G
• gnomAD v2: 4-39448450-A-G
• gnomAD v3: 4-39446830-A-G
• gnomAD v4: 4-39446830-A-G
• COSMIC: COSM2846676
• MyVariant Identifiers: chr4:g.39448450A>G (hg19) ; chr4:g.39446830A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.39446830A>G , CM000666.2:g.39446830A>G	GRCh38
NC_000004.11:g.39448450A>G , CM000666.1:g.39448450A>G	GRCh37
NC_000004.10:g.39124845A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000257408.5:c.2104A>G MANE Select	ENSP00000257408.4:p.Asn702Asp
ENST00000257408.4:c.2104A>G	ENSP00000257408.4:p.Asn702Asp
NM_175737.3:c.2104A>G	NP_783864.1:p.Asn702Asp
XM_005262644.1:c.2077A>G	XP_005262701.1:p.Asn693Asp
NM_175737.4:c.2104A>G MANE Select	NP_783864.1:p.Asn702Asp