Canonical Allele Identifier: CA484791407

Gene: COL4A1

Linked Data

• dbSNP Id: rs1175147301
• MyVariant Identifiers: chr13:g.110857733C>G (hg19) ; chr13:g.110205386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110205386C>G , CM000675.2:g.110205386C>G	GRCh38
NC_000013.10:g.110857733C>G , CM000675.1:g.110857733C>G	GRCh37
NC_000013.9:g.109655734C>G	NCBI36
NG_011544.2:g.106764G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.924G>C MANE Select	ENSP00000364979.4:p.Gly308=
ENST00000543140.6:c.924G>C	ENSP00000443348.1:p.Gly308=
ENST00000647632.1:n.557G>C
ENST00000647797.1:c.803G>C
ENST00000649738.1:n.1054G>C
ENST00000375820.8:c.924G>C	ENSP00000364979.4:p.Gly308=
ENST00000543140.5:c.924G>C	ENSP00000443348.1:p.Gly308=
NM_001303110.1:c.924G>C	NP_001290039.1:p.Gly308=
NM_001845.5:c.924G>C	NP_001836.3:p.Gly308=
XM_011521048.1:c.732G>C	XP_011519350.1:p.Gly244=
XM_011521048.2:c.732G>C	XP_011519350.1:p.Gly244=
NM_001845.6:c.924G>C MANE Select	NP_001836.3:p.Gly308=
NM_001303110.2:c.924G>C	NP_001290039.1:p.Gly308=