Canonical Allele Identifier: CA2118751184

Gene: COL4A1

Linked Data

• dbSNP Id: rs1879433911
• gnomAD v4: 13-110205193-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205193T>C , CM000675.2:g.110205193T>C	GRCh38
NC_000013.10:g.110857540T>C , CM000675.1:g.110857540T>C	GRCh37
NC_000013.9:g.109655541T>C	NCBI36
NG_011544.2:g.106957A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000375820.10:c.957+160A>G MANE Select	ENSP00000364979.4:n.957+160A>G
ENST00000543140.6:c.957+160A>G	ENSP00000443348.1:n.957+160A>G
ENST00000647632.1:n.750A>G
ENST00000647797.1:c.836+160A>G
ENST00000649738.1:n.1087+160A>G
ENST00000375820.8:c.957+160A>G	ENSP00000364979.4:n.957+160A>G
ENST00000543140.5:c.957+160A>G	ENSP00000443348.1:n.957+160A>G
NM_001303110.1:c.957+160A>G	NP_001290039.1:n.957+160A>G
NM_001845.5:c.957+160A>G	NP_001836.3:n.957+160A>G
XM_011521048.1:c.765+160A>G	XP_011519350.1:n.765+160A>G
XM_011521048.2:c.765+160A>G	XP_011519350.1:n.765+160A>G
NM_001845.6:c.957+160A>G MANE Select	NP_001836.3:n.957+160A>G
NM_001303110.2:c.957+160A>G	NP_001290039.1:n.957+160A>G