Canonical Allele Identifier: CA414132844

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695363-G-T
• MyVariant Identifiers: chrX:g.107938593G>T (hg19) ; chrX:g.108695363G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695363G>T , CM000685.2:g.108695363G>T	GRCh38
NC_000023.10:g.107938593G>T , CM000685.1:g.107938593G>T	GRCh37
NC_000023.9:g.107825249G>T	NCBI36
NG_011977.1:g.260440G>T
NG_011977.2:g.260440G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4918G>T MANE Select	ENSP00000331902.7:p.Gly1640Trp
ENST00000361603.7:c.4900G>T	ENSP00000354505.2:p.Gly1634Trp
ENST00000510690.2:n.1412G>T
ENST00000644079.1:n.1749G>T
ENST00000328300.10:c.4918G>T	ENSP00000331902.6:p.Gly1640Trp
ENST00000361603.6:c.4900G>T	ENSP00000354505.2:p.Gly1634Trp
ENST00000504541.1:c.219+442G>T	ENSP00000424845.1:n.219+442G>T
ENST00000515658.1:c.325-934G>T
NM_000495.4:c.4900G>T	NP_000486.1:p.Gly1634Trp
NM_033380.2:c.4918G>T	NP_203699.1:p.Gly1640Trp
XM_005262070.2:c.4909G>T	XP_005262127.1:p.Gly1637Trp
XM_006724616.2:c.4918G>T	XP_006724679.1:p.Gly1640Trp
XM_011530849.1:c.4594G>T	XP_011529151.1:p.Gly1532Trp
XM_011530851.1:c.2491G>T	XP_011529153.1:p.Gly831Trp
XM_011530849.2:c.4933G>T	XP_011529151.2:p.Gly1645Trp
XM_017029259.2:c.4924G>T	XP_016884748.1:p.Gly1642Trp
XM_017029260.1:c.4915G>T	XP_016884749.1:p.Gly1639Trp
XM_017029263.2:c.3253G>T	XP_016884752.1:p.Gly1085Trp
NM_000495.5:c.4900G>T	NP_000486.1:p.Gly1634Trp
NM_033380.3:c.4918G>T MANE Select	NP_203699.1:p.Gly1640Trp