Canonical Allele Identifier: CA006806
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 199747
ClinVar RCV Id: RCV000181116 RCV001184789
dbSNP Id: rs794728057
gnomAD v4: 2-189010708-C-T
COSMIC: COSM3896219 COSM3896220
MyVariant Identifiers: chr2:g.189875434C>T (hg19) chr2:g.189010708C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010708C>T , CM000664.2:g.189010708C>T GRCh38
NC_000002.11:g.189875434C>T , CM000664.1:g.189875434C>T GRCh37
NC_000002.10:g.189583679C>T NCBI36
NG_007404.1:g.41336C>T , LRG_3:g.41336C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3973C>T ENSP00000415346.2:p.Arg1325Ter
ENST00000304636.9:c.4072C>T MANE Select ENSP00000304408.4:p.Arg1358Ter
ENST00000304636.7:c.4072C>T ENSP00000304408.3:p.Arg1358Ter
ENST00000317840.9:c.3163C>T ENSP00000315243.6:p.Arg1055Ter
ENST00000487010.1:n.1451C>T
NM_000090.3:c.4072C>T , LRG_3t1:c.4072C>T NP_000081.1:p.Arg1358Ter
NM_000090.4:c.4072C>T MANE Select NP_000081.2:p.Arg1358Ter
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