Canonical Allele Identifier: CA1315402625

Gene: COL3A1

Linked Data

• dbSNP Id: rs1688506910
• gnomAD v4: 2-189003134-C-CCT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003144_189003145dup , CM000664.2:g.189003144_189003145dup	GRCh38
NC_000002.11:g.189867870_189867871dup , CM000664.1:g.189867870_189867871dup	GRCh37
NC_000002.10:g.189576115_189576116dup	NCBI36
NG_007404.1:g.33772_33773dup , LRG_3:g.33772_33773dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2454+82_2454+83dup	ENSP00000415346.2:n.2454+82_2454+83dup
ENST00000304636.9:c.2553+82_2553+83dup MANE Select	ENSP00000304408.4:n.2553+82_2553+83dup
ENST00000304636.7:c.2553+82_2553+83dup	ENSP00000304408.3:n.2553+82_2553+83dup
ENST00000317840.9:c.2527+108_2527+109dup	ENSP00000315243.6:n.2527+108_2527+109dup
NM_000090.3:c.2553+82_2553+83dup , LRG_3t1:c.2553+82_2553+83dup	NP_000081.1:n.2553+82_2553+83dup
NM_000090.4:c.2553+82_2553+83dup MANE Select	NP_000081.2:n.2553+82_2553+83dup