Canonical Allele Identifier: CA212420868
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 3006617
ClinVar RCV Id: RCV003861232
dbSNP Id: rs778075301
MyVariant Identifiers: chr10:g.105816824G>T (hg19) chr10:g.104057066G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057066G>T , CM000672.2:g.104057066G>T GRCh38
NC_000010.10:g.105816824G>T , CM000672.1:g.105816824G>T GRCh37
NC_000010.9:g.105806814G>T NCBI36
NG_007069.1:g.33815C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1374C>A ENSP00000358748.3:p.Cys458Ter
ENST00000648076.2:c.1374C>A MANE Select ENSP00000497653.1:p.Cys458Ter
ENST00000650263.1:c.1326C>A ENSP00000497850.1:p.Cys442Ter
ENST00000353479.9:c.1374C>A ENSP00000340937.5:p.Cys458Ter
ENST00000369733.7:c.1374C>A ENSP00000358748.3:p.Cys458Ter
NM_000494.3:c.1374C>A NP_000485.3:p.Cys458Ter
NM_000494.4:c.1374C>A MANE Select NP_000485.3:p.Cys458Ter
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