Canonical Allele Identifier: CA349845753

Gene: COL3A1

Linked Data

• MyVariant Identifiers: chr2:g.189872280G>T (hg19) ; chr2:g.189007554G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189007554G>T , CM000664.2:g.189007554G>T	GRCh38
NC_000002.11:g.189872280G>T , CM000664.1:g.189872280G>T	GRCh37
NC_000002.10:g.189580525G>T	NCBI36
NG_007404.1:g.38182G>T , LRG_3:g.38182G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3211G>T	ENSP00000415346.2:p.Gly1071Cys
ENST00000304636.9:c.3310G>T MANE Select	ENSP00000304408.4:p.Gly1104Cys
ENST00000304636.7:c.3310G>T	ENSP00000304408.3:p.Gly1104Cys
ENST00000317840.9:c.2528-500G>T	ENSP00000315243.6:n.2528-500G>T
NM_000090.3:c.3310G>T , LRG_3t1:c.3310G>T	NP_000081.1:p.Gly1104Cys
NM_000090.4:c.3310G>T MANE Select	NP_000081.2:p.Gly1104Cys