Canonical Allele Identifier: CA2662311173

Gene: COL3A1

Linked Data

• gnomAD v4: 2-189008442-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189008442T>C , CM000664.2:g.189008442T>C	GRCh38
NC_000002.11:g.189873168T>C , CM000664.1:g.189873168T>C	GRCh37
NC_000002.10:g.189581413T>C	NCBI36
NG_007404.1:g.39070T>C , LRG_3:g.39070T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.3426+300T>C	ENSP00000415346.2:n.3426+300T>C
ENST00000304636.9:c.3525+300T>C MANE Select	ENSP00000304408.4:n.3525+300T>C
ENST00000304636.7:c.3525+300T>C	ENSP00000304408.3:n.3525+300T>C
ENST00000317840.9:c.2616+300T>C	ENSP00000315243.6:n.2616+300T>C
ENST00000487010.1:n.141T>C
NM_000090.3:c.3525+300T>C , LRG_3t1:c.3525+300T>C	NP_000081.1:n.3525+300T>C
NM_000090.4:c.3525+300T>C MANE Select	NP_000081.2:n.3525+300T>C