Canonical Allele Identifier: CA5678484

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 298713
• ClinVar RCV Id: RCV000376543 ; RCV000493431 ; RCV002279955
• dbSNP Id: rs752317971
• ExAC: 10:105803610 C / A
• gnomAD v2: 10-105803610-C-A
• gnomAD v3: 10-104043852-C-A
• gnomAD v4: 10-104043852-C-A
• MyVariant Identifiers: chr10:g.105803610C>A (hg19) ; chr10:g.104043852C>A (hg38)
• PubMed: PMID:9012408 ; PMID:9077475 ; PMID:21357940 ; PMID:25525159 ; PMID:26502894

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104043852C>A , CM000672.2:g.104043852C>A	GRCh38
NC_000010.10:g.105803610C>A , CM000672.1:g.105803610C>A	GRCh37
NC_000010.9:g.105793600C>A	NCBI36
NG_007069.1:g.47029G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000369733.8:c.2407G>T	ENSP00000358748.3:p.Gly803Ter
ENST00000648076.2:c.2407G>T MANE Select	ENSP00000497653.1:p.Gly803Ter
ENST00000353479.9:c.2407G>T	ENSP00000340937.5:p.Gly803Ter
ENST00000369733.7:c.2407G>T	ENSP00000358748.3:p.Gly803Ter
NM_000494.3:c.2407G>T	NP_000485.3:p.Gly803Ter
NM_000494.4:c.2407G>T MANE Select	NP_000485.3:p.Gly803Ter