Canonical Allele Identifier: CA960168424

Gene: COL4A1

Linked Data

• dbSNP Id: rs767231174
• gnomAD v3: 13-110192367-T-C
• gnomAD v4: 13-110192367-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192367T>C , CM000675.2:g.110192367T>C	GRCh38
NC_000013.10:g.110844714T>C , CM000675.1:g.110844714T>C	GRCh37
NC_000013.9:g.109642715T>C	NCBI36
NG_011544.2:g.119783A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1466-83A>G MANE Select	ENSP00000364979.4:n.1466-83A>G
ENST00000543140.6:c.1466-83A>G	ENSP00000443348.1:n.1466-83A>G
ENST00000649738.1:n.1596-83A>G
ENST00000375820.8:c.1466-83A>G	ENSP00000364979.4:n.1466-83A>G
ENST00000543140.5:c.1466-83A>G	ENSP00000443348.1:n.1466-83A>G
NM_001303110.1:c.1466-83A>G	NP_001290039.1:n.1466-83A>G
NM_001845.5:c.1466-83A>G	NP_001836.3:n.1466-83A>G
XM_011521048.1:c.1274-83A>G	XP_011519350.1:n.1274-83A>G
XM_011521048.2:c.1274-83A>G	XP_011519350.1:n.1274-83A>G
NM_001845.6:c.1466-83A>G MANE Select	NP_001836.3:n.1466-83A>G
NM_001303110.2:c.1466-83A>G	NP_001290039.1:n.1466-83A>G