Canonical Allele Identifier: CA349851048

Gene: COL3A1

Linked Data

• gnomAD v4: 2-188993442-G-T
• MyVariant Identifiers: chr2:g.189858168G>T (hg19) ; chr2:g.188993442G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188993442G>T , CM000664.2:g.188993442G>T	GRCh38
NC_000002.11:g.189858168G>T , CM000664.1:g.189858168G>T	GRCh37
NC_000002.10:g.189566413G>T	NCBI36
NG_007404.1:g.24070G>T , LRG_3:g.24070G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.1050+502G>T	ENSP00000415346.2:n.1050+502G>T
ENST00000304636.9:c.1132G>T MANE Select	ENSP00000304408.4:p.Gly378Cys
ENST00000304636.7:c.1132G>T	ENSP00000304408.3:p.Gly378Cys
ENST00000317840.9:c.1132G>T	ENSP00000315243.6:p.Gly378Cys
ENST00000450867.1:c.148+502G>T
NM_000090.3:c.1132G>T , LRG_3t1:c.1132G>T	NP_000081.1:p.Gly378Cys
NM_000090.4:c.1132G>T MANE Select	NP_000081.2:p.Gly378Cys