Canonical Allele Identifier: CA388726557

Gene: COL4A1

Linked Data

• dbSNP Id: rs1415059791
• gnomAD v2: 13-110864932-G-C
• gnomAD v4: 13-110212585-G-C
• MyVariant Identifiers: chr13:g.110864932G>C (hg19) ; chr13:g.110212585G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212585G>C , CM000675.2:g.110212585G>C	GRCh38
NC_000013.10:g.110864932G>C , CM000675.1:g.110864932G>C	GRCh37
NC_000013.9:g.109662933G>C	NCBI36
NG_011544.2:g.99565C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.313C>G MANE Select	ENSP00000364979.4:p.Pro105Ala
ENST00000543140.6:c.313C>G	ENSP00000443348.1:p.Pro105Ala
ENST00000615732.2:c.121C>G	ENSP00000478222.2:p.Pro41Ala
ENST00000647797.1:c.192C>G
ENST00000648170.1:n.192C>G
ENST00000648966.1:c.192C>G
ENST00000649484.1:c.192C>G
ENST00000649738.1:n.443C>G
ENST00000650138.1:n.2C>G
ENST00000375820.8:c.313C>G	ENSP00000364979.4:p.Pro105Ala
ENST00000543140.5:c.313C>G	ENSP00000443348.1:p.Pro105Ala
ENST00000615732.1:c.121C>G	ENSP00000478222.1:p.Pro41Ala
NM_001303110.1:c.313C>G	NP_001290039.1:p.Pro105Ala
NM_001845.5:c.313C>G	NP_001836.3:p.Pro105Ala
XM_011521048.1:c.121C>G	XP_011519350.1:p.Pro41Ala
XM_011521048.2:c.121C>G	XP_011519350.1:p.Pro41Ala
NM_001845.6:c.313C>G MANE Select	NP_001836.3:p.Pro105Ala
NM_001303110.2:c.313C>G	NP_001290039.1:p.Pro105Ala