Canonical Allele Identifier: CA6961291

Gene: KBTBD7 KBTBD6-DT

Linked Data

• ClinVar Variation Id: 254109
• ClinVar RCV Id: RCV000240138
• dbSNP Id: rs748092018
• ExAC: 13:41767186 T / G
• gnomAD v2: 13-41767186-T-G
• gnomAD v3: 13-41193050-T-G
• gnomAD v4: 13-41193050-T-G
• MyVariant Identifiers: chr13:g.41767186T>G (hg19) ; chr13:g.41193050T>G (hg38)
• PubMed: PMID:28299356

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.41193050T>G , CM000675.2:g.41193050T>G	GRCh38
NC_000013.10:g.41767186T>G , CM000675.1:g.41767186T>G	GRCh37
NC_000013.9:g.40665186T>G	NCBI36
NG_053142.1:g.6535A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000379483.4:c.1208A>C (KBTBD7) MANE Select	ENSP00000368797.3:p.Lys403Thr
ENST00000379483.3:c.1208A>C (KBTBD7)	ENSP00000368797.3:p.Lys403Thr
NM_032138.4:c.1208A>C (KBTBD7)	NP_115514.2:p.Lys403Thr
NR_120423.1:n.350+30647T>G (KBTBD6-DT)
NM_032138.6:c.1208A>C (KBTBD7)	NP_115514.2:p.Lys403Thr
NM_032138.7:c.1208A>C (KBTBD7) MANE Select	NP_115514.2:p.Lys403Thr