Canonical Allele Identifier: CA5679051
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2797716
ClinVar RCV Id: RCV003673363
dbSNP Id: rs778075301

Genomic Alleles

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

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1374C>T ENSP00000358748.3:p.Cys458=
ENST00000648076.2:c.1374C>T MANE Select ENSP00000497653.1:p.Cys458=
ENST00000650263.1:c.1326C>T ENSP00000497850.1:p.Cys442=
ENST00000353479.9:c.1374C>T ENSP00000340937.5:p.Cys458=
ENST00000369733.7:c.1374C>T ENSP00000358748.3:p.Cys458=
NM_000494.3:c.1374C>T NP_000485.3:p.Cys458=
NM_000494.4:c.1374C>T MANE Select NP_000485.3:p.Cys458=