Canonical Allele Identifier: CA7048196

Gene: COL4A1

Linked Data

• dbSNP Id: rs768343343
• ExAC: 13:110857634 A / G
• gnomAD v2: 13-110857634-A-G
• gnomAD v4: 13-110205287-A-G
• MyVariant Identifiers: chr13:g.110857634A>G (hg19) ; chr13:g.110205287A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205287A>G , CM000675.2:g.110205287A>G	GRCh38
NC_000013.10:g.110857634A>G , CM000675.1:g.110857634A>G	GRCh37
NC_000013.9:g.109655635A>G	NCBI36
NG_011544.2:g.106863T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.957+66T>C MANE Select	ENSP00000364979.4:n.957+66T>C
ENST00000543140.6:c.957+66T>C	ENSP00000443348.1:n.957+66T>C
ENST00000647632.1:n.656T>C
ENST00000647797.1:c.836+66T>C
ENST00000649738.1:n.1087+66T>C
ENST00000375820.8:c.957+66T>C	ENSP00000364979.4:n.957+66T>C
ENST00000543140.5:c.957+66T>C	ENSP00000443348.1:n.957+66T>C
NM_001303110.1:c.957+66T>C	NP_001290039.1:n.957+66T>C
NM_001845.5:c.957+66T>C	NP_001836.3:n.957+66T>C
XM_011521048.1:c.765+66T>C	XP_011519350.1:n.765+66T>C
XM_011521048.2:c.765+66T>C	XP_011519350.1:n.765+66T>C
NM_001845.6:c.957+66T>C MANE Select	NP_001836.3:n.957+66T>C
NM_001303110.2:c.957+66T>C	NP_001290039.1:n.957+66T>C