Canonical Allele Identifier: CA006373
Gene: COL3A1 HGNC NCBI

Linked Data

ClinVar Variation Id: 101480
ClinVar RCV Id: RCV000087719
dbSNP Id: rs587779444
MyVariant Identifiers: chr2:g.189872665G>T (hg19) chr2:g.189007939G>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189007939G>T , CM000664.2:g.189007939G>T GRCh38
NC_000002.11:g.189872665G>T , CM000664.1:g.189872665G>T GRCh37
NC_000002.10:g.189580910G>T NCBI36
NG_007404.1:g.38567G>T , LRG_3:g.38567G>T

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.3318+1G>T ENSP00000415346.2:n.3318+1G>T
ENST00000304636.9:c.3417+1G>T MANE Select ENSP00000304408.4:n.3417+1G>T
ENST00000304636.7:c.3417+1G>T ENSP00000304408.3:n.3417+1G>T
ENST00000317840.9:c.2528-115G>T ENSP00000315243.6:n.2528-115G>T
NM_000090.3:c.3417+1G>T , LRG_3t1:c.3417+1G>T NP_000081.1:n.3417+1G>T
NM_000090.4:c.3417+1G>T MANE Select NP_000081.2:n.3417+1G>T
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