Canonical Allele Identifier: CA10489417

Gene: COL4A5

Linked Data

• dbSNP Id: rs768320352
• ExAC: X:107938087 C / G
• gnomAD v2: X-107938087-C-G
• gnomAD v4: X-108694857-C-G
• MyVariant Identifiers: chrX:g.107938087C>G (hg19) ; chrX:g.108694857C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694857C>G , CM000685.2:g.108694857C>G	GRCh38
NC_000023.10:g.107938087C>G , CM000685.1:g.107938087C>G	GRCh37
NC_000023.9:g.107824743C>G	NCBI36
NG_011977.1:g.259934C>G
NG_011977.2:g.259934C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4757C>G MANE Select	ENSP00000331902.7:p.Thr1586Arg
ENST00000361603.7:c.4739C>G	ENSP00000354505.2:p.Thr1580Arg
ENST00000510690.2:n.1251C>G
ENST00000644079.1:n.1243C>G
ENST00000328300.10:c.4757C>G	ENSP00000331902.6:p.Thr1586Arg
ENST00000361603.6:c.4739C>G	ENSP00000354505.2:p.Thr1580Arg
ENST00000504541.1:c.155C>G	ENSP00000424845.1:p.Thr52Arg
ENST00000515658.1:c.325-1440C>G
NM_000495.4:c.4739C>G	NP_000486.1:p.Thr1580Arg
NM_033380.2:c.4757C>G	NP_203699.1:p.Thr1586Arg
XM_005262070.2:c.4748C>G	XP_005262127.1:p.Thr1583Arg
XM_006724616.2:c.4757C>G	XP_006724679.1:p.Thr1586Arg
XM_011530849.1:c.4433C>G	XP_011529151.1:p.Thr1478Arg
XM_011530851.1:c.2330C>G	XP_011529153.1:p.Thr777Arg
XM_011530849.2:c.4772C>G	XP_011529151.2:p.Thr1591Arg
XM_017029259.2:c.4763C>G	XP_016884748.1:p.Thr1588Arg
XM_017029260.1:c.4754C>G	XP_016884749.1:p.Thr1585Arg
XM_017029263.2:c.3092C>G	XP_016884752.1:p.Thr1031Arg
NM_000495.5:c.4739C>G	NP_000486.1:p.Thr1580Arg
NM_033380.3:c.4757C>G MANE Select	NP_203699.1:p.Thr1586Arg