Canonical Allele Identifier: CA414132802

Gene: COL4A5

Linked Data

• COSMIC: COSM5876843 ; COSM5876844
• MyVariant Identifiers: chrX:g.107938575C>T (hg19) ; chrX:g.108695345C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695345C>T , CM000685.2:g.108695345C>T	GRCh38
NC_000023.10:g.107938575C>T , CM000685.1:g.107938575C>T	GRCh37
NC_000023.9:g.107825231C>T	NCBI36
NG_011977.1:g.260422C>T
NG_011977.2:g.260422C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4900C>T MANE Select	ENSP00000331902.7:p.Pro1634Ser
ENST00000361603.7:c.4882C>T	ENSP00000354505.2:p.Pro1628Ser
ENST00000510690.2:n.1394C>T
ENST00000644079.1:n.1731C>T
ENST00000328300.10:c.4900C>T	ENSP00000331902.6:p.Pro1634Ser
ENST00000361603.6:c.4882C>T	ENSP00000354505.2:p.Pro1628Ser
ENST00000504541.1:c.219+424C>T	ENSP00000424845.1:n.219+424C>T
ENST00000515658.1:c.325-952C>T
NM_000495.4:c.4882C>T	NP_000486.1:p.Pro1628Ser
NM_033380.2:c.4900C>T	NP_203699.1:p.Pro1634Ser
XM_005262070.2:c.4891C>T	XP_005262127.1:p.Pro1631Ser
XM_006724616.2:c.4900C>T	XP_006724679.1:p.Pro1634Ser
XM_011530849.1:c.4576C>T	XP_011529151.1:p.Pro1526Ser
XM_011530851.1:c.2473C>T	XP_011529153.1:p.Pro825Ser
XM_011530849.2:c.4915C>T	XP_011529151.2:p.Pro1639Ser
XM_017029259.2:c.4906C>T	XP_016884748.1:p.Pro1636Ser
XM_017029260.1:c.4897C>T	XP_016884749.1:p.Pro1633Ser
XM_017029263.2:c.3235C>T	XP_016884752.1:p.Pro1079Ser
NM_000495.5:c.4882C>T	NP_000486.1:p.Pro1628Ser
NM_033380.3:c.4900C>T MANE Select	NP_203699.1:p.Pro1634Ser