Canonical Allele Identifier: CA349850861

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189858118C>T (hg19) ; chr2:g.188993392C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993392C>T , CM000664.2:g.188993392C>T	GRCh38
NC_000002.11:g.189858118C>T , CM000664.1:g.189858118C>T	GRCh37
NC_000002.10:g.189566363C>T	NCBI36
NG_007404.1:g.24020C>T , LRG_3:g.24020C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1050+452C>T	ENSP00000415346.2:n.1050+452C>T
ENST00000304636.9:c.1082C>T MANE Select	ENSP00000304408.4:p.Ser361Leu
ENST00000304636.7:c.1082C>T	ENSP00000304408.3:p.Ser361Leu
ENST00000317840.9:c.1082C>T	ENSP00000315243.6:p.Ser361Leu
ENST00000450867.1:c.148+452C>T
NM_000090.3:c.1082C>T , LRG_3t1:c.1082C>T	NP_000081.1:p.Ser361Leu
NM_000090.4:c.1082C>T MANE Select	NP_000081.2:p.Ser361Leu