Canonical Allele Identifier: CA8548969
Gene: KRT12 HGNC NCBI

Linked Data

ClinVar Variation Id: 2647750
ClinVar RCV Id: RCV003419728
dbSNP Id: rs761086617
ExAC: 17:39023379 C / G
gnomAD v2: 17-39023379-C-G
gnomAD v3: 17-40867127-C-G
gnomAD v4: 17-40867127-C-G
MyVariant Identifiers: chr17:g.39023379C>G (hg19) chr17:g.40867127C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40867127C>G , CM000679.2:g.40867127C>G GRCh38
NC_000017.10:g.39023379C>G , CM000679.1:g.39023379C>G GRCh37
NC_000017.9:g.36276905C>G NCBI36
NG_008077.1:g.5084G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.60G>C MANE Select ENSP00000251643.4:p.Arg20=
ENST00000647902.1:c.60G>C ENSP00000497770.1:p.Arg20=
ENST00000251643.4:c.60G>C ENSP00000251643.4:p.Arg20=
NM_000223.3:c.60G>C NP_000214.1:p.Arg20=
XR_934754.1:n.1500+16267C>G
XR_934754.2:n.2008+16267C>G
NM_000223.4:c.60G>C MANE Select NP_000214.1:p.Arg20=
Search 100 bp 5'
Search 100 bp 3'