Canonical Allele Identifier: CA200410

Gene: COL4A1 COL4A2

Linked Data

• ClinVar Variation Id: 193216
• ClinVar RCV Id: RCV000173263 ; RCV000259549 ; RCV000305275 ; RCV001515223 ; RCV002247583
• dbSNP Id: rs9515185
• ExAC: 13:110959356 C / G
• gnomAD v2: 13-110959356-C-G
• gnomAD v3: 13-110307009-C-G
• gnomAD v4: 13-110307009-C-G
• MyVariant Identifiers: chr13:g.110959356C>G (hg19) ; chr13:g.110307009C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110307009C>G , CM000675.2:g.110307009C>G	GRCh38
NC_000013.10:g.110959356C>G , CM000675.1:g.110959356C>G	GRCh37
NC_000013.9:g.109757357C>G	NCBI36
NG_011544.2:g.5141G>C
NG_032137.1:g.4726C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.19G>C (COL4A1) MANE Select	ENSP00000364979.4:p.Val7Leu
ENST00000400163.7:c.-44-851C>G (COL4A2)	ENSP00000383027.3:n.-44-851C>G
ENST00000543140.6:c.19G>C (COL4A1)	ENSP00000443348.1:p.Val7Leu
ENST00000649738.1:n.149G>C (COL4A1)
ENST00000375820.8:c.19G>C (COL4A1)	ENSP00000364979.4:p.Val7Leu
ENST00000400163.6:c.-44-851C>G (COL4A2)	ENSP00000383027.2:n.-44-851C>G
ENST00000543140.5:c.19G>C (COL4A1)	ENSP00000443348.1:p.Val7Leu
NM_001303110.1:c.19G>C (COL4A1)	NP_001290039.1:p.Val7Leu
NM_001845.5:c.19G>C (COL4A1)	NP_001836.3:p.Val7Leu
NM_001845.6:c.19G>C (COL4A1) MANE Select	NP_001836.3:p.Val7Leu
NM_001303110.2:c.19G>C (COL4A1)	NP_001290039.1:p.Val7Leu