Canonical Allele Identifier: CA349851638
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 918598
dbSNP Id: rs751471411

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188994554A>G , CM000664.2:g.188994554A>G GRCh38
NC_000002.11:g.189859280A>G , CM000664.1:g.189859280A>G GRCh37
NC_000002.10:g.189567525A>G NCBI36
NG_007404.1:g.25182A>G , LRG_3:g.25182A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1208A>G ENSP00000415346.2:p.Lys403Arg
ENST00000304636.9:c.1307A>G MANE Select ENSP00000304408.4:p.Lys436Arg
ENST00000304636.7:c.1307A>G ENSP00000304408.3:p.Lys436Arg
ENST00000317840.9:c.1307A>G ENSP00000315243.6:p.Lys436Arg
NM_000090.3:c.1307A>G , LRG_3t1:c.1307A>G NP_000081.1:p.Lys436Arg
NM_000090.4:c.1307A>G MANE Select NP_000081.2:p.Lys436Arg