Canonical Allele Identifier: CA10634488

Gene: COL17A1

Linked Data

• ClinVar Variation Id: 298681
• ClinVar RCV Id: RCV000348236 ; RCV003765750
• dbSNP Id: rs886046682
• gnomAD v2: 10-105792419-A-G
• gnomAD v3: 10-104032661-A-G
• gnomAD v4: 10-104032661-A-G
• MyVariant Identifiers: chr10:g.105792419A>G (hg19) ; chr10:g.104032661A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000010.11:g.104032661A>G , CM000672.2:g.104032661A>G	GRCh38
NC_000010.10:g.105792419A>G , CM000672.1:g.105792419A>G	GRCh37
NC_000010.9:g.105782409A>G	NCBI36
NG_007069.1:g.58220T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000369733.8:c.4192+13T>C	ENSP00000358748.3:n.4192+13T>C
ENST00000647647.1:c.699+13T>C
ENST00000648076.2:c.4438+13T>C MANE Select	ENSP00000497653.1:n.4438+13T>C
ENST00000353479.9:c.4438+13T>C	ENSP00000340937.5:n.4438+13T>C
ENST00000369733.7:c.4192+13T>C	ENSP00000358748.3:n.4192+13T>C
ENST00000433822.1:c.144+13T>C
NM_000494.3:c.4438+13T>C	NP_000485.3:n.4438+13T>C
NM_000494.4:c.4438+13T>C MANE Select	NP_000485.3:n.4438+13T>C