Canonical Allele Identifier: CA6580852
Gene: KRT6B HGNC NCBI

Linked Data

ClinVar Variation Id: 3116577
ClinVar RCV Id: RCV004414425
dbSNP Id: rs779355995
ExAC: 12:52845421 G / A
gnomAD v2: 12-52845421-G-A
gnomAD v3: 12-52451637-G-A
gnomAD v4: 12-52451637-G-A
MyVariant Identifiers: chr12:g.52845421G>A (hg19) chr12:g.52451637G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52451637G>A , CM000674.2:g.52451637G>A GRCh38
NC_000012.11:g.52845421G>A , CM000674.1:g.52845421G>A GRCh37
NC_000012.10:g.51131688G>A NCBI36
NG_008299.1:g.5490C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000252252.4:c.442C>T MANE Select ENSP00000252252.3:p.Leu148Phe
ENST00000252252.3:c.442C>T ENSP00000252252.3:p.Leu148Phe
NM_005555.3:c.442C>T NP_005546.2:p.Leu148Phe
NM_005555.4:c.442C>T MANE Select NP_005546.2:p.Leu148Phe
Search 100 bp 5'
Search 100 bp 3'