Canonical Allele Identifier: CA62595297
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 1015656
ClinVar RCV Id: RCV001314544
dbSNP Id: rs1057519250
gnomAD v2: 2-189859000-C-A
gnomAD v3: 2-188994274-C-A
gnomAD v4: 2-188994274-C-A
MyVariant Identifiers: chr2:g.189859000C>A (hg19) chr2:g.188994274C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994274C>A , CM000664.2:g.188994274C>A GRCh38
NC_000002.11:g.189859000C>A , CM000664.1:g.189859000C>A GRCh37
NC_000002.10:g.189567245C>A NCBI36
NG_007404.1:g.24902C>A , LRG_3:g.24902C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1136C>A ENSP00000415346.2:p.Ala379Asp
ENST00000304636.9:c.1235C>A MANE Select ENSP00000304408.4:p.Ala412Asp
ENST00000304636.7:c.1235C>A ENSP00000304408.3:p.Ala412Asp
ENST00000317840.9:c.1235C>A ENSP00000315243.6:p.Ala412Asp
ENST00000450867.1:c.234C>A
NM_000090.3:c.1235C>A , LRG_3t1:c.1235C>A NP_000081.1:p.Ala412Asp
NM_000090.4:c.1235C>A MANE Select NP_000081.2:p.Ala412Asp
Search 100 bp 5'
Search 100 bp 3'