Canonical Allele Identifier: CA126041
Gene: KRT1 HGNC NCBI
MyVariant.info:
GRCh38 chr12:g.52677682C>G
GRCh37 chr12:g.53071466C>G
Revel Score:
ENST00000252244 (MANE Select) 0.515
ClinVar RCV:
RCV000017258
ClinVar Variation:
15907
dbSNP:
137853224
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52677682C>G , CM000674.2:g.52677682C>G GRCh38
NC_000012.11:g.53071466C>G , CM000674.1:g.53071466C>G GRCh37
NC_000012.10:g.51357733C>G NCBI36
NG_008364.1:g.7726G>C
NG_008364.2:g.7726G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000252244.3:c.931G>C MANE Select ENSP00000252244.3:p.Glu311Gln
NM_006121.3:c.931G>C NP_006112.3:p.Glu311Gln
NM_006121.4:c.931G>C MANE Select NP_006112.3:p.Glu311Gln
Search 100 bp 5'
Search 100 bp 3'