Canonical Allele Identifier: CA349843732

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 843197
• ClinVar RCV Id: RCV001045759 ; RCV001524510 ; RCV002464360 ; RCV002479281
• dbSNP Id: rs1455100373
• gnomAD v2: 2-189868724-C-T
• gnomAD v3: 2-189003998-C-T
• gnomAD v4: 2-189003998-C-T
• COSMIC: COSM6089810
• MyVariant Identifiers: chr2:g.189868724C>T (hg19) ; chr2:g.189003998C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189003998C>T , CM000664.2:g.189003998C>T	GRCh38
NC_000002.11:g.189868724C>T , CM000664.1:g.189868724C>T	GRCh37
NC_000002.10:g.189576969C>T	NCBI36
NG_007404.1:g.34626C>T , LRG_3:g.34626C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2579C>T	ENSP00000415346.2:p.Pro860Leu
ENST00000304636.9:c.2678C>T MANE Select	ENSP00000304408.4:p.Pro893Leu
ENST00000304636.7:c.2678C>T	ENSP00000304408.3:p.Pro893Leu
ENST00000317840.9:c.2527+962C>T	ENSP00000315243.6:n.2527+962C>T
NM_000090.3:c.2678C>T , LRG_3t1:c.2678C>T	NP_000081.1:p.Pro893Leu
NM_000090.4:c.2678C>T MANE Select	NP_000081.2:p.Pro893Leu