Canonical Allele Identifier: CA1315398121
Gene: COL3A1 HGNC NCBI

Linked Data

dbSNP Id: rs1688233392
gnomAD v4: 2-188993543-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.188993543A>G , CM000664.2:g.188993543A>G GRCh38
NC_000002.11:g.189858269A>G , CM000664.1:g.189858269A>G GRCh37
NC_000002.10:g.189566514A>G NCBI36
NG_007404.1:g.24171A>G , LRG_3:g.24171A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000450867.2:c.1051-495A>G ENSP00000415346.2:n.1051-495A>G
ENST00000304636.9:c.1149+84A>G MANE Select ENSP00000304408.4:n.1149+84A>G
ENST00000304636.7:c.1149+84A>G ENSP00000304408.3:n.1149+84A>G
ENST00000317840.9:c.1149+84A>G ENSP00000315243.6:n.1149+84A>G
ENST00000450867.1:c.149-495A>G
NM_000090.3:c.1149+84A>G , LRG_3t1:c.1149+84A>G NP_000081.1:n.1149+84A>G
NM_000090.4:c.1149+84A>G MANE Select NP_000081.2:n.1149+84A>G
Search 100 bp 5'
Search 100 bp 3'