Allele Registry

WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.

ClinGen Allele Registry

Canonical Allele Identifier: CA349849990

Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 2709032

ClinVar RCV Id: RCV003524212

MyVariant Identifiers: chr2:g.189856407G>T (hg19) chr2:g.188991681G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188991681G>T , CM000664.2:g.188991681G>T	GRCh38
NC_000002.11:g.189856407G>T , CM000664.1:g.189856407G>T	GRCh37
NC_000002.10:g.189564652G>T	NCBI36
NG_007404.1:g.22309G>T , LRG_3:g.22309G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.910G>T	ENSP00000415346.2:p.Ala304Ser
ENST00000304636.9:c.910G>T MANE Select	ENSP00000304408.4:p.Ala304Ser
ENST00000304636.7:c.910G>T	ENSP00000304408.3:p.Ala304Ser
ENST00000317840.9:c.910G>T	ENSP00000315243.6:p.Ala304Ser
ENST00000450867.1:c.8G>T
NM_000090.3:c.910G>T , LRG_3t1:c.910G>T	NP_000081.1:p.Ala304Ser
NM_000090.4:c.910G>T MANE Select	NP_000081.2:p.Ala304Ser