Canonical Allele Identifier: CA399387940
Gene: KRT12 HGNC NCBI
MyVariant.info:
GRCh38 chr17:g.40866760C>T
GRCh37 chr17:g.39023012C>T
Revel Score:
ENST00000251643 (MANE Select) 0.883
gnomAD v2:
17:39023012 C / T
gnomAD v4:
chr17-40866760-C-T
Joint Max Group AF 7.9e-7 (NFE)
Exomes Max Group AF 8.4e-7 (NFE)
dbSNP:
58343600
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.40866760C>T , CM000679.2:g.40866760C>T GRCh38
NC_000017.10:g.39023012C>T , CM000679.1:g.39023012C>T GRCh37
NC_000017.9:g.36276538C>T NCBI36
NG_008077.1:g.5451G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000251643.5:c.427G>A MANE Select ENSP00000251643.4:p.Val143Met
ENST00000647902.1:c.319G>A ENSP00000497770.1:p.Val107Met
ENST00000251643.4:c.427G>A ENSP00000251643.4:p.Val143Met
NM_000223.3:c.427G>A NP_000214.1:p.Val143Met
XR_934754.1:n.1500+15900C>T
XR_934754.2:n.2008+15900C>T
NM_000223.4:c.427G>A MANE Select NP_000214.1:p.Val143Met
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