Canonical Allele Identifier: CA62593301

Gene: COL3A1

Linked Data

• dbSNP Id: rs552349329
• gnomAD v3: 2-188992013-G-T
• gnomAD v4: 2-188992013-G-T
• MyVariant Identifiers: chr2:g.189856739G>T (hg19) ; chr2:g.188992013G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188992013G>T , CM000664.2:g.188992013G>T	GRCh38
NC_000002.11:g.189856739G>T , CM000664.1:g.189856739G>T	GRCh37
NC_000002.10:g.189564984G>T	NCBI36
NG_007404.1:g.22641G>T , LRG_3:g.22641G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.952-171G>T	ENSP00000415346.2:n.952-171G>T
ENST00000304636.9:c.952-171G>T MANE Select	ENSP00000304408.4:n.952-171G>T
ENST00000304636.7:c.952-171G>T	ENSP00000304408.3:n.952-171G>T
ENST00000317840.9:c.952-171G>T	ENSP00000315243.6:n.952-171G>T
ENST00000450867.1:c.50-171G>T
NM_000090.3:c.952-171G>T , LRG_3t1:c.952-171G>T	NP_000081.1:n.952-171G>T
NM_000090.4:c.952-171G>T MANE Select	NP_000081.2:n.952-171G>T