Canonical Allele Identifier: CA399494436
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs149934946
gnomAD v3: 17-41612245-C-G
gnomAD v4: 17-41612245-C-G
MyVariant Identifiers: chr17:g.39768497C>G (hg19) chr17:g.41612245C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612245C>G , CM000679.2:g.41612245C>G GRCh38
NC_000017.10:g.39768497C>G , CM000679.1:g.39768497C>G GRCh37
NC_000017.9:g.37022023C>G NCBI36
NG_008301.1:g.5583G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.444G>C MANE Select ENSP00000301653.3:p.Lys148Asn
ENST00000301653.8:c.444G>C ENSP00000301653.3:p.Lys148Asn
ENST00000588319.1:n.521G>C
ENST00000593067.1:c.-271G>C ENSP00000467124.1:n.-271G>C
NM_005557.3:c.444G>C NP_005548.2:p.Lys148Asn
NM_005557.4:c.444G>C MANE Select NP_005548.2:p.Lys148Asn
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