Canonical Allele Identifier: CA341448
Gene: COL4A1 HGNC NCBI
COL4A2 HGNC NCBI

Linked Data

ClinVar Variation Id: 17415
ClinVar RCV Id: RCV002247364
dbSNP Id: rs113994103

Genomic Alleles

HGVS Genome Assembly
NC_000013.11:g.110307027T>A , CM000675.2:g.110307027T>A GRCh38
NC_000013.10:g.110959374T>A , CM000675.1:g.110959374T>A GRCh37
NC_000013.9:g.109757375T>A NCBI36
NG_011544.2:g.5123A>T
NG_032137.1:g.4744T>A

Transcript Alleles

HGVS Amino-acid change
ENST00000375820.10:c.1A>T (COL4A1) MANE Select ENSP00000364979.4:p.Met1Leu
ENST00000400163.7:c.-44-833T>A (COL4A2) ENSP00000383027.3:n.-44-833T>A
ENST00000543140.6:c.1A>T (COL4A1) ENSP00000443348.1:p.Met1Leu
ENST00000649738.1:n.131A>T (COL4A1)
ENST00000375820.8:c.1A>T (COL4A1) ENSP00000364979.4:p.Met1Leu
ENST00000400163.6:c.-44-833T>A (COL4A2) ENSP00000383027.2:n.-44-833T>A
ENST00000543140.5:c.1A>T (COL4A1) ENSP00000443348.1:p.Met1Leu
NM_001303110.1:c.1A>T (COL4A1) NP_001290039.1:p.Met1Leu
NM_001845.5:c.1A>T (COL4A1) NP_001836.3:p.Met1Leu
NM_001845.6:c.1A>T (COL4A1) MANE Select NP_001836.3:p.Met1Leu
NM_001303110.2:c.1A>T (COL4A1) NP_001290039.1:p.Met1Leu