Canonical Allele Identifier: CA4407817

Gene: PLOD3

Linked Data

• ClinVar Variation Id: 440182
• ClinVar RCV Id: RCV000508323 ; RCV000514263
• dbSNP Id: rs41281013
• ExAC: 7:100855215 C / G
• gnomAD v2: 7-100855215-C-G
• gnomAD v3: 7-101211934-C-G
• gnomAD v4: 7-101211934-C-G
• MyVariant Identifiers: chr7:g.100855215C>G (hg19) ; chr7:g.101211934C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000007.14:g.101211934C>G , CM000669.2:g.101211934C>G	GRCh38
NC_000007.13:g.100855215C>G , CM000669.1:g.100855215C>G	GRCh37
NC_000007.12:g.100641935C>G	NCBI36
NG_012148.1:g.10797G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000223127.8:c.1144G>C MANE Select	ENSP00000223127.3:p.Asp382His
ENST00000223127.7:c.1144G>C	ENSP00000223127.3:p.Asp382His
ENST00000421736.1:c.516G>C
ENST00000460475.1:n.576G>C
ENST00000463479.1:n.4G>C
ENST00000478082.5:n.1344G>C
NM_001084.4:c.1144G>C	NP_001075.1:p.Asp382His
NM_001084.5:c.1144G>C MANE Select	NP_001075.1:p.Asp382His