Canonical Allele Identifier: CA384934651
Gene: KRT6C HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52469692G>C , CM000674.2:g.52469692G>C GRCh38
NC_000012.11:g.52863476G>C , CM000674.1:g.52863476G>C GRCh37
NC_000012.10:g.51149743G>C NCBI36
NG_012416.1:g.9094C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000252250.7:c.1402C>G MANE Select ENSP00000252250.6:p.Leu468Val
ENST00000252250.6:c.1402C>G ENSP00000252250.6:p.Leu468Val
NM_173086.4:c.1402C>G NP_775109.2:p.Leu468Val
NM_173086.5:c.1402C>G MANE Select NP_775109.2:p.Leu468Val