Canonical Allele Identifier: CA115563
Gene: KRT74 HGNC NCBI

Linked Data

ClinVar Variation Id: 2460
ClinVar RCV Id: RCV000002564 RCV000057503
dbSNP Id: rs267607205
gnomAD v3: 12-52573334-G-C
gnomAD v4: 12-52573334-G-C
MyVariant Identifiers: chr12:g.52967118G>C (hg19) chr12:g.52573334G>C (hg38)
PubMed: PMID:20346438
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Genomic Alleles

HGVS Genome Assembly
NC_000012.12:g.52573334G>C , CM000674.2:g.52573334G>C GRCh38
NC_000012.11:g.52967118G>C , CM000674.1:g.52967118G>C GRCh37
NC_000012.10:g.51253385G>C NCBI36
NG_012321.1:g.5492C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000305620.3:c.444C>G MANE Select ENSP00000307240.2:p.Asn148Lys
ENST00000305620.2:c.444C>G ENSP00000307240.2:p.Asn148Lys
ENST00000549343.5:c.444C>G ENSP00000447447.1:p.Asn148Lys
NM_175053.3:c.444C>G NP_778223.2:p.Asn148Lys
XM_011537902.1:c.444C>G XP_011536204.1:p.Asn148Lys
NM_175053.4:c.444C>G MANE Select NP_778223.2:p.Asn148Lys
Search 100 bp 5'
Search 100 bp 3'