Canonical Allele Identifier: CA388726580

Gene: COL4A1

Linked Data

• MyVariant Identifiers: chr13:g.110864938C>G (hg19) ; chr13:g.110212591C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110212591C>G , CM000675.2:g.110212591C>G	GRCh38
NC_000013.10:g.110864938C>G , CM000675.1:g.110864938C>G	GRCh37
NC_000013.9:g.109662939C>G	NCBI36
NG_011544.2:g.99559G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.307G>C MANE Select	ENSP00000364979.4:p.Gly103Arg
ENST00000543140.6:c.307G>C	ENSP00000443348.1:p.Gly103Arg
ENST00000615732.2:c.115G>C	ENSP00000478222.2:p.Gly39Arg
ENST00000647797.1:c.186G>C
ENST00000648170.1:n.186G>C
ENST00000648966.1:c.186G>C
ENST00000649484.1:c.186G>C
ENST00000649738.1:n.437G>C
ENST00000375820.8:c.307G>C	ENSP00000364979.4:p.Gly103Arg
ENST00000543140.5:c.307G>C	ENSP00000443348.1:p.Gly103Arg
ENST00000615732.1:c.115G>C	ENSP00000478222.1:p.Gly39Arg
NM_001303110.1:c.307G>C	NP_001290039.1:p.Gly103Arg
NM_001845.5:c.307G>C	NP_001836.3:p.Gly103Arg
XM_011521048.1:c.115G>C	XP_011519350.1:p.Gly39Arg
XM_011521048.2:c.115G>C	XP_011519350.1:p.Gly39Arg
NM_001845.6:c.307G>C MANE Select	NP_001836.3:p.Gly103Arg
NM_001303110.2:c.307G>C	NP_001290039.1:p.Gly103Arg