Canonical Allele Identifier: CA430310939
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1394018718
MyVariant Identifiers: chr2:g.189866164G>A (hg19) chr2:g.189001438G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189001438G>A , CM000664.2:g.189001438G>A GRCh38
NC_000002.11:g.189866164G>A , CM000664.1:g.189866164G>A GRCh37
NC_000002.10:g.189574409G>A NCBI36
NG_007404.1:g.32066G>A , LRG_3:g.32066G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.2226G>A ENSP00000415346.2:p.Gln742=
ENST00000304636.9:c.2325G>A MANE Select ENSP00000304408.4:p.Gln775=
ENST00000304636.7:c.2325G>A ENSP00000304408.3:p.Gln775=
ENST00000317840.9:c.2325G>A ENSP00000315243.6:p.Gln775=
NM_000090.3:c.2325G>A , LRG_3t1:c.2325G>A NP_000081.1:p.Gln775=
NM_000090.4:c.2325G>A MANE Select NP_000081.2:p.Gln775=
Search 100 bp 5'
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