Canonical Allele Identifier: CA10627987

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 298678
• ClinVar RCV Id: RCV000317208 ; RCV001612937
• dbSNP Id: rs805687
• gnomAD v2: 10-105791929-C-G
• gnomAD v3: 10-104032171-C-G
• gnomAD v4: 10-104032171-C-G
• MyVariant Identifiers: chr10:g.105791929C>G (hg19) ; chr10:g.104032171C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104032171C>G , CM000672.2:g.104032171C>G	GRCh38
NC_000010.10:g.105791929C>G , CM000672.1:g.105791929C>G	GRCh37
NC_000010.9:g.105781919C>G	NCBI36
NG_007069.1:g.58710G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.4312G>C	ENSP00000358748.3:n.4312G>C
ENST00000647647.1:c.819G>C
ENST00000648076.2:c.*64G>C MANE Select	ENSP00000497653.1:n.*64G>C
ENST00000353479.9:c.*64G>C	ENSP00000340937.5:n.*64G>C
ENST00000369733.7:c.*64G>C	ENSP00000358748.3:n.*64G>C
ENST00000433822.1:c.231+33G>C
NM_000494.3:c.*64G>C	NP_000485.3:n.*64G>C
NM_000494.4:c.*64G>C MANE Select	NP_000485.3:n.*64G>C