Canonical Allele Identifier: CA5677717

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 256275
• ClinVar RCV Id: RCV000247403 ; RCV000307690 ; RCV001582812 ; RCV001711544
• dbSNP Id: rs17116350
• ExAC: 10:105793750 T / C
• gnomAD v2: 10-105793750-T-C
• gnomAD v3: 10-104033992-T-C
• gnomAD v4: 10-104033992-T-C
• MyVariant Identifiers: chr10:g.105793750T>C (hg19) ; chr10:g.104033992T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104033992T>C , CM000672.2:g.104033992T>C	GRCh38
NC_000010.10:g.105793750T>C , CM000672.1:g.105793750T>C	GRCh37
NC_000010.9:g.105783740T>C	NCBI36
NG_007069.1:g.56889A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.3863A>G	ENSP00000358748.3:p.Asp1288Gly
ENST00000647647.1:c.139A>G
ENST00000648076.2:c.4109A>G MANE Select	ENSP00000497653.1:p.Asp1370Gly
ENST00000353479.9:c.4109A>G	ENSP00000340937.5:p.Asp1370Gly
ENST00000369733.7:c.3863A>G	ENSP00000358748.3:p.Asp1288Gly
NM_000494.3:c.4109A>G	NP_000485.3:p.Asp1370Gly
NM_000494.4:c.4109A>G MANE Select	NP_000485.3:p.Asp1370Gly