Canonical Allele Identifier: CA388732804

Gene: COL4A1 COL4A2

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110307026A>T , CM000675.2:g.110307026A>T	GRCh38
NC_000013.10:g.110959373A>T , CM000675.1:g.110959373A>T	GRCh37
NC_000013.9:g.109757374A>T	NCBI36
NG_011544.2:g.5124T>A
NG_032137.1:g.4743A>T

Transcript Alleles

HGVS	Amino-acid Change
NM_001845.6:c.2T>A (COL4A1) MANE Select	NP_001836.3:p.Met1Lys
ENST00000375820.10:c.2T>A (COL4A1) MANE Select	ENSP00000364979.4:p.Met1Lys
NM_001303110.1:c.2T>A (COL4A1)	NP_001290039.1:p.Met1Lys
NM_001303110.2:c.2T>A (COL4A1)	NP_001290039.1:p.Met1Lys
NM_001845.5:c.2T>A (COL4A1)	NP_001836.3:p.Met1Lys
ENST00000375820.8:c.2T>A (COL4A1)	ENSP00000364979.4:p.Met1Lys
ENST00000400163.6:c.-44-834A>T (COL4A2)	ENSP00000383027.2:n.-44-834A>T
ENST00000400163.7:c.-44-834A>T (COL4A2)	ENSP00000383027.3:n.-44-834A>T
ENST00000543140.5:c.2T>A (COL4A1)	ENSP00000443348.1:p.Met1Lys
ENST00000543140.6:c.2T>A (COL4A1)	ENSP00000443348.1:p.Met1Lys
ENST00000649738.1:n.132T>A (COL4A1)