Canonical Allele Identifier: CA349846642

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189873686G>T (hg19) ; chr2:g.189008960G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008960G>T , CM000664.2:g.189008960G>T	GRCh38
NC_000002.11:g.189873686G>T , CM000664.1:g.189873686G>T	GRCh37
NC_000002.10:g.189581931G>T	NCBI36
NG_007404.1:g.39588G>T , LRG_3:g.39588G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.3463G>T	ENSP00000415346.2:p.Gly1155Ter
ENST00000304636.9:c.3562G>T MANE Select	ENSP00000304408.4:p.Gly1188Ter
ENST00000304636.7:c.3562G>T	ENSP00000304408.3:p.Gly1188Ter
ENST00000317840.9:c.2653G>T	ENSP00000315243.6:p.Gly885Ter
ENST00000487010.1:n.659G>T
NM_000090.3:c.3562G>T , LRG_3t1:c.3562G>T	NP_000081.1:p.Gly1188Ter
NM_000090.4:c.3562G>T MANE Select	NP_000081.2:p.Gly1188Ter