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: CA006679

Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101466

ClinVar RCV Id: RCV001811400

dbSNP Id: rs587779703

MyVariant Identifiers: chr2:g.189873696G>A (hg19) chr2:g.189008970G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008970G>A , CM000664.2:g.189008970G>A	GRCh38
NC_000002.11:g.189873696G>A , CM000664.1:g.189873696G>A	GRCh37
NC_000002.10:g.189581941G>A	NCBI36
NG_007404.1:g.39598G>A , LRG_3:g.39598G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.3473G>A	ENSP00000415346.2:p.Gly1158Asp
ENST00000304636.9:c.3572G>A MANE Select	ENSP00000304408.4:p.Gly1191Asp
ENST00000304636.7:c.3572G>A	ENSP00000304408.3:p.Gly1191Asp
ENST00000317840.9:c.2663G>A	ENSP00000315243.6:p.Gly888Asp
ENST00000487010.1:n.669G>A
NM_000090.3:c.3572G>A , LRG_3t1:c.3572G>A	NP_000081.1:p.Gly1191Asp
NM_000090.4:c.3572G>A MANE Select	NP_000081.2:p.Gly1191Asp