Canonical Allele Identifier: CA471341883
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1456917432
gnomAD v2: 10-105794395-C-G
gnomAD v4: 10-104034637-C-G
MyVariant Identifiers: chr10:g.105794395C>G (hg19) chr10:g.104034637C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034637C>G , CM000672.2:g.104034637C>G GRCh38
NC_000010.10:g.105794395C>G , CM000672.1:g.105794395C>G GRCh37
NC_000010.9:g.105784385C>G NCBI36
NG_007069.1:g.56244G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3504G>C ENSP00000358748.3:p.Leu1168=
ENST00000648076.2:c.3750G>C MANE Select ENSP00000497653.1:p.Leu1250=
ENST00000353479.9:c.3750G>C ENSP00000340937.5:p.Leu1250=
ENST00000369733.7:c.3504G>C ENSP00000358748.3:p.Leu1168=
NM_000494.3:c.3750G>C NP_000485.3:p.Leu1250=
NM_000494.4:c.3750G>C MANE Select NP_000485.3:p.Leu1250=
Search 100 bp 5'
Search 100 bp 3'