Canonical Allele Identifier: CA5677752
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 879942
ClinVar RCV Id: RCV001107864
dbSNP Id: rs777099411
ExAC: 10:105793904 C / T
gnomAD v2: 10-105793904-C-T
gnomAD v3: 10-104034146-C-T
gnomAD v4: 10-104034146-C-T
MyVariant Identifiers: chr10:g.105793904C>T (hg19) chr10:g.104034146C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034146C>T , CM000672.2:g.104034146C>T GRCh38
NC_000010.10:g.105793904C>T , CM000672.1:g.105793904C>T GRCh37
NC_000010.9:g.105783894C>T NCBI36
NG_007069.1:g.56735G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3709G>A ENSP00000358748.3:p.Gly1237Ser
ENST00000648076.2:c.3955G>A MANE Select ENSP00000497653.1:p.Gly1319Ser
ENST00000353479.9:c.3955G>A ENSP00000340937.5:p.Gly1319Ser
ENST00000369733.7:c.3709G>A ENSP00000358748.3:p.Gly1237Ser
NM_000494.3:c.3955G>A NP_000485.3:p.Gly1319Ser
NM_000494.4:c.3955G>A MANE Select NP_000485.3:p.Gly1319Ser
Search 100 bp 5'
Search 100 bp 3'