Canonical Allele Identifier: CA5677752

Gene: COL17A1

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)

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