Canonical Allele Identifier: CA471503320
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2780836
ClinVar RCV Id: RCV003659645
dbSNP Id: rs1589554920
gnomAD v3: 10-104034306-G-T
gnomAD v4: 10-104034306-G-T
MyVariant Identifiers: chr10:g.105794064G>T (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034306G>T , CM000672.2:g.104034306G>T GRCh38
NC_000010.10:g.105794064G>T , CM000672.1:g.105794064G>T GRCh37
NC_000010.9:g.105784054G>T NCBI36
NG_007069.1:g.56575C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3549C>A ENSP00000358748.3:p.Gly1183=
ENST00000648076.2:c.3795C>A MANE Select ENSP00000497653.1:p.Gly1265=
ENST00000353479.9:c.3795C>A ENSP00000340937.5:p.Gly1265=
ENST00000369733.7:c.3549C>A ENSP00000358748.3:p.Gly1183=
NM_000494.3:c.3795C>A NP_000485.3:p.Gly1265=
NM_000494.4:c.3795C>A MANE Select NP_000485.3:p.Gly1265=
Search 100 bp 5'
Search 100 bp 3'