Canonical Allele Identifier: CA349849514
Gene: COL3A1 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.189875517T>A (hg19) chr2:g.189010791T>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.189010791T>A , CM000664.2:g.189010791T>A GRCh38
NC_000002.11:g.189875517T>A , CM000664.1:g.189875517T>A GRCh37
NC_000002.10:g.189583762T>A NCBI36
NG_007404.1:g.41419T>A , LRG_3:g.41419T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000450867.2:c.4056T>A ENSP00000415346.2:p.Asn1352Lys
ENST00000304636.9:c.4155T>A MANE Select ENSP00000304408.4:p.Asn1385Lys
ENST00000304636.7:c.4155T>A ENSP00000304408.3:p.Asn1385Lys
ENST00000317840.9:c.3246T>A ENSP00000315243.6:p.Asn1082Lys
ENST00000487010.1:n.1534T>A
NM_000090.3:c.4155T>A , LRG_3t1:c.4155T>A NP_000081.1:p.Asn1385Lys
NM_000090.4:c.4155T>A MANE Select NP_000081.2:p.Asn1385Lys
Search 100 bp 5'
Search 100 bp 3'