Canonical Allele Identifier: CA8563352
Gene: KRT16 HGNC NCBI

Linked Data

ClinVar Variation Id: 2139740
ClinVar RCV Id: RCV003052755
dbSNP Id: rs774260784
ExAC: 17:39768833 G / C
gnomAD v2: 17-39768833-G-C
gnomAD v3: 17-41612581-G-C
gnomAD v4: 17-41612581-G-C
MyVariant Identifiers: chr17:g.39768833G>C (hg19) chr17:g.41612581G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612581G>C , CM000679.2:g.41612581G>C GRCh38
NC_000017.10:g.39768833G>C , CM000679.1:g.39768833G>C GRCh37
NC_000017.9:g.37022359G>C NCBI36
NG_008301.1:g.5247C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.108C>G MANE Select ENSP00000301653.3:p.Ala36=
ENST00000301653.8:c.108C>G ENSP00000301653.3:p.Ala36=
ENST00000588319.1:n.185C>G
ENST00000590990.1:c.108C>G ENSP00000467105.1:p.Ala36=
ENST00000593067.1:c.-313+209C>G ENSP00000467124.1:n.-313+209C>G
NM_005557.3:c.108C>G NP_005548.2:p.Ala36=
NM_005557.4:c.108C>G MANE Select NP_005548.2:p.Ala36=
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Search 100 bp 3'