Canonical Allele Identifier: CA378065853
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1226767852
gnomAD v2: 10-105794075-A-G
gnomAD v4: 10-104034317-A-G
MyVariant Identifiers: chr10:g.105794075A>G (hg19) chr10:g.104034317A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034317A>G , CM000672.2:g.104034317A>G GRCh38
NC_000010.10:g.105794075A>G , CM000672.1:g.105794075A>G GRCh37
NC_000010.9:g.105784065A>G NCBI36
NG_007069.1:g.56564T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3538T>C ENSP00000358748.3:p.Phe1180Leu
ENST00000648076.2:c.3784T>C MANE Select ENSP00000497653.1:p.Phe1262Leu
ENST00000353479.9:c.3784T>C ENSP00000340937.5:p.Phe1262Leu
ENST00000369733.7:c.3538T>C ENSP00000358748.3:p.Phe1180Leu
NM_000494.3:c.3784T>C NP_000485.3:p.Phe1262Leu
NM_000494.4:c.3784T>C MANE Select NP_000485.3:p.Phe1262Leu
Search 100 bp 5'
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