Canonical Allele Identifier: CA384981786
Gene: KRT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 816696
ClinVar RCV Id: RCV001007639
dbSNP Id: rs1592169234
MyVariant Identifiers: chr12:g.52841580A>C (hg19) chr12:g.52447796A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52447796A>C , CM000674.2:g.52447796A>C GRCh38
NC_000012.11:g.52841580A>C , CM000674.1:g.52841580A>C GRCh37
NC_000012.10:g.51127847A>C NCBI36
NG_008299.1:g.9331T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.1406T>G MANE Select ENSP00000252252.3:p.Leu469Arg
ENST00000252252.3:c.1406T>G ENSP00000252252.3:p.Leu469Arg
NM_005555.3:c.1406T>G NP_005546.2:p.Leu469Arg
NM_005555.4:c.1406T>G MANE Select NP_005546.2:p.Leu469Arg
Search 100 bp 5'
Search 100 bp 3'