Canonical Allele Identifier: CA349849250
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189875410C>G (hg19) chr2:g.189010684C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010684C>G , CM000664.2:g.189010684C>G GRCh38
NC_000002.11:g.189875410C>G , CM000664.1:g.189875410C>G GRCh37
NC_000002.10:g.189583655C>G NCBI36
NG_007404.1:g.41312C>G , LRG_3:g.41312C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.3949C>G ENSP00000415346.2:p.Leu1317Val
ENST00000304636.9:c.4048C>G MANE Select ENSP00000304408.4:p.Leu1350Val
ENST00000304636.7:c.4048C>G ENSP00000304408.3:p.Leu1350Val
ENST00000317840.9:c.3139C>G ENSP00000315243.6:p.Leu1047Val
ENST00000487010.1:n.1427C>G
NM_000090.3:c.4048C>G , LRG_3t1:c.4048C>G NP_000081.1:p.Leu1350Val
NM_000090.4:c.4048C>G MANE Select NP_000081.2:p.Leu1350Val
Search 100 bp 5'
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