Canonical Allele Identifier: CA5677874
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 877149
ClinVar RCV Id: RCV001102641
dbSNP Id: rs768835063
ExAC: 10:105794520 C / T
gnomAD v2: 10-105794520-C-T
gnomAD v3: 10-104034762-C-T
gnomAD v4: 10-104034762-C-T
COSMIC: COSM6356802
MyVariant Identifiers: chr10:g.105794520C>T (hg19) chr10:g.104034762C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034762C>T , CM000672.2:g.104034762C>T GRCh38
NC_000010.10:g.105794520C>T , CM000672.1:g.105794520C>T GRCh37
NC_000010.9:g.105784510C>T NCBI36
NG_007069.1:g.56119G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3379G>A ENSP00000358748.3:p.Gly1127Ser
ENST00000648076.2:c.3625G>A MANE Select ENSP00000497653.1:p.Gly1209Ser
ENST00000353479.9:c.3625G>A ENSP00000340937.5:p.Gly1209Ser
ENST00000369733.7:c.3379G>A ENSP00000358748.3:p.Gly1127Ser
NM_000494.3:c.3625G>A NP_000485.3:p.Gly1209Ser
NM_000494.4:c.3625G>A MANE Select NP_000485.3:p.Gly1209Ser
Search 100 bp 5'
Search 100 bp 3'