Canonical Allele Identifier: CA695006282

Gene: COL4A1

Linked Data

• dbSNP Id: rs1173386272
• gnomAD v3: 13-110192414-A-G
• gnomAD v4: 13-110192414-A-G
• MyVariant Identifiers: chr13:g.110844761A>G (hg19) ; chr13:g.110192414A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110192414A>G , CM000675.2:g.110192414A>G	GRCh38
NC_000013.10:g.110844761A>G , CM000675.1:g.110844761A>G	GRCh37
NC_000013.9:g.109642762A>G	NCBI36
NG_011544.2:g.119736T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.1466-130T>C MANE Select	ENSP00000364979.4:n.1466-130T>C
ENST00000543140.6:c.1466-130T>C	ENSP00000443348.1:n.1466-130T>C
ENST00000649738.1:n.1596-130T>C
ENST00000375820.8:c.1466-130T>C	ENSP00000364979.4:n.1466-130T>C
ENST00000543140.5:c.1466-130T>C	ENSP00000443348.1:n.1466-130T>C
NM_001303110.1:c.1466-130T>C	NP_001290039.1:n.1466-130T>C
NM_001845.5:c.1466-130T>C	NP_001836.3:n.1466-130T>C
XM_011521048.1:c.1274-130T>C	XP_011519350.1:n.1274-130T>C
XM_011521048.2:c.1274-130T>C	XP_011519350.1:n.1274-130T>C
NM_001845.6:c.1466-130T>C MANE Select	NP_001836.3:n.1466-130T>C
NM_001303110.2:c.1466-130T>C	NP_001290039.1:n.1466-130T>C