Canonical Allele Identifier: CA349845289
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 927345
ClinVar RCV Id: RCV001190563
dbSNP Id: rs1688599491
gnomAD v4: 2-189006970-G-T
MyVariant Identifiers: chr2:g.189871696G>T (hg19) chr2:g.189006970G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189006970G>T , CM000664.2:g.189006970G>T GRCh38
NC_000002.11:g.189871696G>T , CM000664.1:g.189871696G>T GRCh37
NC_000002.10:g.189579941G>T NCBI36
NG_007404.1:g.37598G>T , LRG_3:g.37598G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3136G>T ENSP00000415346.2:p.Ala1046Ser
ENST00000304636.9:c.3235G>T MANE Select ENSP00000304408.4:p.Ala1079Ser
ENST00000304636.7:c.3235G>T ENSP00000304408.3:p.Ala1079Ser
ENST00000317840.9:c.2528-1084G>T ENSP00000315243.6:n.2528-1084G>T
NM_000090.3:c.3235G>T , LRG_3t1:c.3235G>T NP_000081.1:p.Ala1079Ser
NM_000090.4:c.3235G>T MANE Select NP_000081.2:p.Ala1079Ser
Search 100 bp 5'
Search 100 bp 3'