Canonical Allele Identifier: CA5678094
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2898511
ClinVar RCV Id: RCV003726458
dbSNP Id: rs201918712
ExAC: 10:105797515 A / C
gnomAD v2: 10-105797515-A-C
gnomAD v3: 10-104037757-A-C
gnomAD v4: 10-104037757-A-C
MyVariant Identifiers: chr10:g.105797515A>C (hg19) chr10:g.104037757A>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037757A>C , CM000672.2:g.104037757A>C GRCh38
NC_000010.10:g.105797515A>C , CM000672.1:g.105797515A>C GRCh37
NC_000010.9:g.105787505A>C NCBI36
NG_007069.1:g.53124T>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.2952T>G ENSP00000358748.3:p.Ser984=
ENST00000648076.2:c.3087T>G MANE Select ENSP00000497653.1:p.Ser1029=
ENST00000353479.9:c.3087T>G ENSP00000340937.5:p.Ser1029=
ENST00000369733.7:c.2952T>G ENSP00000358748.3:p.Ser984=
NM_000494.3:c.3087T>G NP_000485.3:p.Ser1029=
NM_000494.4:c.3087T>G MANE Select NP_000485.3:p.Ser1029=
Search 100 bp 5'
Search 100 bp 3'