Canonical Allele Identifier: CA500206488
Gene: KRT16 HGNC NCBI

Linked Data

dbSNP Id: rs1908226083
gnomAD v3: 17-41612248-C-A
gnomAD v4: 17-41612248-C-A
MyVariant Identifiers: chr17:g.39768500C>A (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000017.11:g.41612248C>A , CM000679.2:g.41612248C>A GRCh38
NC_000017.10:g.39768500C>A , CM000679.1:g.39768500C>A GRCh37
NC_000017.9:g.37022026C>A NCBI36
NG_008301.1:g.5580G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000301653.9:c.441G>T MANE Select ENSP00000301653.3:p.Val147=
ENST00000301653.8:c.441G>T ENSP00000301653.3:p.Val147=
ENST00000588319.1:n.518G>T
ENST00000593067.1:c.-274G>T ENSP00000467124.1:n.-274G>T
NM_005557.3:c.441G>T NP_005548.2:p.Val147=
NM_005557.4:c.441G>T MANE Select NP_005548.2:p.Val147=
Search 100 bp 5'
Search 100 bp 3'