Canonical Allele Identifier: CA349843837

Gene: COL3A1

Linked Data

• ClinVar Variation Id: 3074417
• ClinVar RCV Id: RCV004013951
• MyVariant Identifiers: chr2:g.189868749G>C (hg19) ; chr2:g.189004023G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.189004023G>C , CM000664.2:g.189004023G>C	GRCh38
NC_000002.11:g.189868749G>C , CM000664.1:g.189868749G>C	GRCh37
NC_000002.10:g.189576994G>C	NCBI36
NG_007404.1:g.34651G>C , LRG_3:g.34651G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000450867.2:c.2604G>C	ENSP00000415346.2:p.Lys868Asn
ENST00000304636.9:c.2703G>C MANE Select	ENSP00000304408.4:p.Lys901Asn
ENST00000304636.7:c.2703G>C	ENSP00000304408.3:p.Lys901Asn
ENST00000317840.9:c.2527+987G>C	ENSP00000315243.6:n.2527+987G>C
NM_000090.3:c.2703G>C , LRG_3t1:c.2703G>C	NP_000081.1:p.Lys901Asn
NM_000090.4:c.2703G>C MANE Select	NP_000081.2:p.Lys901Asn