Canonical Allele Identifier: CA378065928
Gene: COL17A1 HGNC NCBI

Linked Data

dbSNP Id: rs1430002943
gnomAD v2: 10-105794392-G-C
gnomAD v4: 10-104034634-G-C
MyVariant Identifiers: chr10:g.105794392G>C (hg19) chr10:g.104034634G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034634G>C , CM000672.2:g.104034634G>C GRCh38
NC_000010.10:g.105794392G>C , CM000672.1:g.105794392G>C GRCh37
NC_000010.9:g.105784382G>C NCBI36
NG_007069.1:g.56247C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3507C>G ENSP00000358748.3:p.Ile1169Met
ENST00000648076.2:c.3753C>G MANE Select ENSP00000497653.1:p.Ile1251Met
ENST00000353479.9:c.3753C>G ENSP00000340937.5:p.Ile1251Met
ENST00000369733.7:c.3507C>G ENSP00000358748.3:p.Ile1169Met
NM_000494.3:c.3753C>G NP_000485.3:p.Ile1251Met
NM_000494.4:c.3753C>G MANE Select NP_000485.3:p.Ile1251Met
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