Canonical Allele Identifier: CA256284604

Gene: COL4A1

Linked Data

• dbSNP Id: rs546404411
• gnomAD v3: 13-110205278-C-A
• gnomAD v4: 13-110205278-C-A
• MyVariant Identifiers: chr13:g.110857625C>A (hg19) ; chr13:g.110205278C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205278C>A , CM000675.2:g.110205278C>A	GRCh38
NC_000013.10:g.110857625C>A , CM000675.1:g.110857625C>A	GRCh37
NC_000013.9:g.109655626C>A	NCBI36
NG_011544.2:g.106872G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.957+75G>T MANE Select	ENSP00000364979.4:n.957+75G>T
ENST00000543140.6:c.957+75G>T	ENSP00000443348.1:n.957+75G>T
ENST00000647632.1:n.665G>T
ENST00000647797.1:c.836+75G>T
ENST00000649738.1:n.1087+75G>T
ENST00000375820.8:c.957+75G>T	ENSP00000364979.4:n.957+75G>T
ENST00000543140.5:c.957+75G>T	ENSP00000443348.1:n.957+75G>T
NM_001303110.1:c.957+75G>T	NP_001290039.1:n.957+75G>T
NM_001845.5:c.957+75G>T	NP_001836.3:n.957+75G>T
XM_011521048.1:c.765+75G>T	XP_011519350.1:n.765+75G>T
XM_011521048.2:c.765+75G>T	XP_011519350.1:n.765+75G>T
NM_001845.6:c.957+75G>T MANE Select	NP_001836.3:n.957+75G>T
NM_001303110.2:c.957+75G>T	NP_001290039.1:n.957+75G>T