Canonical Allele Identifier: CA484789050

Gene: COL4A1

Linked Data

• gnomAD v4: 13-110212583-T-C
• MyVariant Identifiers: chr13:g.110864930T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212583T>C , CM000675.2:g.110212583T>C	GRCh38
NC_000013.10:g.110864930T>C , CM000675.1:g.110864930T>C	GRCh37
NC_000013.9:g.109662931T>C	NCBI36
NG_011544.2:g.99567A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.315A>G MANE Select	ENSP00000364979.4:p.Pro105=
ENST00000543140.6:c.315A>G	ENSP00000443348.1:p.Pro105=
ENST00000615732.2:c.123A>G	ENSP00000478222.2:p.Pro41=
ENST00000647797.1:c.194A>G
ENST00000648170.1:n.194A>G
ENST00000648966.1:c.194A>G
ENST00000649484.1:c.194A>G
ENST00000649738.1:n.445A>G
ENST00000650138.1:n.4A>G
ENST00000375820.8:c.315A>G	ENSP00000364979.4:p.Pro105=
ENST00000543140.5:c.315A>G	ENSP00000443348.1:p.Pro105=
ENST00000615732.1:c.123A>G	ENSP00000478222.1:p.Pro41=
NM_001303110.1:c.315A>G	NP_001290039.1:p.Pro105=
NM_001845.5:c.315A>G	NP_001836.3:p.Pro105=
XM_011521048.1:c.123A>G	XP_011519350.1:p.Pro41=
XM_011521048.2:c.123A>G	XP_011519350.1:p.Pro41=
NM_001845.6:c.315A>G MANE Select	NP_001836.3:p.Pro105=
NM_001303110.2:c.315A>G	NP_001290039.1:p.Pro105=