Canonical Allele Identifier: CA5679052
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2440269
ClinVar RCV Id: RCV003145697
dbSNP Id: rs781186018
ExAC: 10:105816829 G / C
gnomAD v2: 10-105816829-G-C
gnomAD v3: 10-104057071-G-C
gnomAD v4: 10-104057071-G-C
MyVariant Identifiers: chr10:g.105816829G>C (hg19) chr10:g.104057071G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104057071G>C , CM000672.2:g.104057071G>C GRCh38
NC_000010.10:g.105816829G>C , CM000672.1:g.105816829G>C GRCh37
NC_000010.9:g.105806819G>C NCBI36
NG_007069.1:g.33810C>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.1369C>G ENSP00000358748.3:p.Pro457Ala
ENST00000648076.2:c.1369C>G MANE Select ENSP00000497653.1:p.Pro457Ala
ENST00000650263.1:c.1321C>G ENSP00000497850.1:p.Pro441Ala
ENST00000353479.9:c.1369C>G ENSP00000340937.5:p.Pro457Ala
ENST00000369733.7:c.1369C>G ENSP00000358748.3:p.Pro457Ala
NM_000494.3:c.1369C>G NP_000485.3:p.Pro457Ala
NM_000494.4:c.1369C>G MANE Select NP_000485.3:p.Pro457Ala
Search 100 bp 5'
Search 100 bp 3'