Canonical Allele Identifier: CA127324
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 17650
ClinVar RCV Id: RCV000019218
dbSNP Id: rs121912771

Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034193C>T , CM000672.2:g.104034193C>T GRCh38
NC_000010.10:g.105793951C>T , CM000672.1:g.105793951C>T GRCh37
NC_000010.9:g.105783941C>T NCBI36
NG_007069.1:g.56688G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:n.3662G>A ENSP00000358748.3:p.Arg1221Gln
ENST00000648076.2:c.3908G>A MANE Select ENSP00000497653.1:p.Arg1303Gln
ENST00000353479.9:c.3908G>A ENSP00000340937.5:p.Arg1303Gln
ENST00000369733.7:c.3662G>A ENSP00000358748.3:p.Arg1221Gln
NM_000494.3:c.3908G>A NP_000485.3:p.Arg1303Gln
NM_000494.4:c.3908G>A MANE Select NP_000485.3:p.Arg1303Gln