Canonical Allele Identifier: CA471343727
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2894255
ClinVar RCV Id: RCV003725727
dbSNP Id: rs1201562502
gnomAD v2: 10-105797437-G-A
gnomAD v3: 10-104037679-G-A
gnomAD v4: 10-104037679-G-A
COSMIC: COSM1345638
MyVariant Identifiers: chr10:g.105797437G>A (hg19) chr10:g.104037679G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104037679G>A , CM000672.2:g.104037679G>A GRCh38
NC_000010.10:g.105797437G>A , CM000672.1:g.105797437G>A GRCh37
NC_000010.9:g.105787427G>A NCBI36
NG_007069.1:g.53202C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000369733.8:c.3030C>T ENSP00000358748.3:p.Phe1010=
ENST00000648076.2:c.3165C>T MANE Select ENSP00000497653.1:p.Phe1055=
ENST00000353479.9:c.3165C>T ENSP00000340937.5:p.Phe1055=
ENST00000369733.7:c.3030C>T ENSP00000358748.3:p.Phe1010=
NM_000494.3:c.3165C>T NP_000485.3:p.Phe1055=
NM_000494.4:c.3165C>T MANE Select NP_000485.3:p.Phe1055=
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