Canonical Allele Identifier: CA7048575

Gene: COL4A1

Linked Data

• dbSNP Id: rs764072918
• ExAC: 13:110864901 A / C
• gnomAD v2: 13-110864901-A-C
• gnomAD v4: 13-110212554-A-C
• MyVariant Identifiers: chr13:g.110864901A>C (hg19) ; chr13:g.110212554A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212554A>C , CM000675.2:g.110212554A>C	GRCh38
NC_000013.10:g.110864901A>C , CM000675.1:g.110864901A>C	GRCh37
NC_000013.9:g.109662902A>C	NCBI36
NG_011544.2:g.99596T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.324+20T>G MANE Select	ENSP00000364979.4:n.324+20T>G
ENST00000543140.6:c.324+20T>G	ENSP00000443348.1:n.324+20T>G
ENST00000615732.2:c.132+20T>G	ENSP00000478222.2:n.132+20T>G
ENST00000647797.1:c.203+20T>G
ENST00000648170.1:n.203+20T>G
ENST00000648966.1:c.203+20T>G
ENST00000649484.1:c.203+20T>G
ENST00000649738.1:n.454+20T>G
ENST00000650138.1:n.13+20T>G
ENST00000375820.8:c.324+20T>G	ENSP00000364979.4:n.324+20T>G
ENST00000543140.5:c.324+20T>G	ENSP00000443348.1:n.324+20T>G
ENST00000615732.1:c.132+20T>G	ENSP00000478222.1:n.132+20T>G
NM_001303110.1:c.324+20T>G	NP_001290039.1:n.324+20T>G
NM_001845.5:c.324+20T>G	NP_001836.3:n.324+20T>G
XM_011521048.1:c.132+20T>G	XP_011519350.1:n.132+20T>G
XM_011521048.2:c.132+20T>G	XP_011519350.1:n.132+20T>G
NM_001845.6:c.324+20T>G MANE Select	NP_001836.3:n.324+20T>G
NM_001303110.2:c.324+20T>G	NP_001290039.1:n.324+20T>G