Canonical Allele Identifier: CA5677632

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 298684
• ClinVar RCV Id: RCV000351868 ; RCV000938918 ; RCV003920221
• dbSNP Id: rs571566750
• ExAC: 10:105792725 A / G
• gnomAD v2: 10-105792725-A-G
• gnomAD v3: 10-104032967-A-G
• gnomAD v4: 10-104032967-A-G
• MyVariant Identifiers: chr10:g.105792725A>G (hg19) ; chr10:g.104032967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104032967A>G , CM000672.2:g.104032967A>G	GRCh38
NC_000010.10:g.105792725A>G , CM000672.1:g.105792725A>G	GRCh37
NC_000010.9:g.105782715A>G	NCBI36
NG_007069.1:g.57914T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.4050T>C	ENSP00000358748.3:p.Thr1350=
ENST00000647647.1:c.557T>C
ENST00000648076.2:c.4296T>C MANE Select	ENSP00000497653.1:p.Thr1432=
ENST00000353479.9:c.4296T>C	ENSP00000340937.5:p.Thr1432=
ENST00000369733.7:c.4050T>C	ENSP00000358748.3:p.Thr1350=
ENST00000433822.1:c.2T>C
NM_000494.3:c.4296T>C	NP_000485.3:p.Thr1432=
NM_000494.4:c.4296T>C MANE Select	NP_000485.3:p.Thr1432=