Canonical Allele Identifier: CA258050
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17648
ClinVar RCV Id: RCV002279923
dbSNP Id: rs121912770

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104038409G>A , CM000672.2:g.104038409G>A GRCh38
NC_000010.10:g.105798167G>A , CM000672.1:g.105798167G>A GRCh37
NC_000010.9:g.105788157G>A NCBI36
NG_007069.1:g.52472C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.2932C>T ENSP00000358748.3:p.Gln978Ter
ENST00000648076.2:c.3067C>T MANE Select ENSP00000497653.1:p.Gln1023Ter
ENST00000353479.9:c.3067C>T ENSP00000340937.5:p.Gln1023Ter
ENST00000369733.7:c.2932C>T ENSP00000358748.3:p.Gln978Ter
NM_000494.3:c.3067C>T NP_000485.3:p.Gln1023Ter
NM_000494.4:c.3067C>T MANE Select NP_000485.3:p.Gln1023Ter