Canonical Allele Identifier: CA471341989
Gene: COL17A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2754262
ClinVar RCV Id: RCV003569237
gnomAD v4: 10-104034718-T-C
MyVariant Identifiers: chr10:g.105794476T>C (hg19)
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Genomic Alleles

HGVS Genome Assembly
NC_000010.11:g.104034718T>C , CM000672.2:g.104034718T>C GRCh38
NC_000010.10:g.105794476T>C , CM000672.1:g.105794476T>C GRCh37
NC_000010.9:g.105784466T>C NCBI36
NG_007069.1:g.56163A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000369733.8:c.3423A>G ENSP00000358748.3:p.Pro1141=
ENST00000648076.2:c.3669A>G MANE Select ENSP00000497653.1:p.Pro1223=
ENST00000353479.9:c.3669A>G ENSP00000340937.5:p.Pro1223=
ENST00000369733.7:c.3423A>G ENSP00000358748.3:p.Pro1141=
NM_000494.3:c.3669A>G NP_000485.3:p.Pro1223=
NM_000494.4:c.3669A>G MANE Select NP_000485.3:p.Pro1223=
Search 100 bp 5'
Search 100 bp 3'