Canonical Allele Identifier: CA1040404081

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688113210
• gnomAD v3: 2-188988654-A-AT
• gnomAD v4: 2-188988654-A-AT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.188988656dup , CM000664.2:g.188988656dup	GRCh38
NC_000002.11:g.189853382dup , CM000664.1:g.189853382dup	GRCh37
NC_000002.10:g.189561627dup	NCBI36
NG_007404.1:g.19284dup , LRG_3:g.19284dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000450867.2:c.636+13dup	ENSP00000415346.2:n.636+13dup
ENST00000304636.9:c.636+13dup MANE Select	ENSP00000304408.4:n.636+13dup
ENST00000304636.7:c.636+13dup	ENSP00000304408.3:n.636+13dup
ENST00000317840.9:c.636+13dup	ENSP00000315243.6:n.636+13dup
NM_000090.3:c.636+13dup , LRG_3t1:c.636+13dup	NP_000081.1:n.636+13dup
NM_000090.4:c.636+13dup MANE Select	NP_000081.2:n.636+13dup