Canonical Allele Identifier: CA413853993

Gene: COL4A5

Linked Data

• dbSNP Id: rs2068570110
• gnomAD v3: X-108687511-C-T
• gnomAD v4: X-108687511-C-T
• MyVariant Identifiers: chrX:g.107930741C>T (hg19) ; chrX:g.108687511C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687511C>T , CM000685.2:g.108687511C>T	GRCh38
NC_000023.10:g.107930741C>T , CM000685.1:g.107930741C>T	GRCh37
NC_000023.9:g.107817397C>T	NCBI36
NG_011977.1:g.252588C>T
NG_011977.2:g.252588C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4345C>T MANE Select	ENSP00000331902.7:p.Pro1449Ser
ENST00000361603.7:c.4327C>T	ENSP00000354505.2:p.Pro1443Ser
ENST00000510690.2:n.839C>T
ENST00000328300.10:c.4345C>T	ENSP00000331902.6:p.Pro1449Ser
ENST00000361603.6:c.4327C>T	ENSP00000354505.2:p.Pro1443Ser
ENST00000515658.1:c.141C>T
NM_000495.4:c.4327C>T	NP_000486.1:p.Pro1443Ser
NM_033380.2:c.4345C>T	NP_203699.1:p.Pro1449Ser
XM_005262070.2:c.4336C>T	XP_005262127.1:p.Pro1446Ser
XM_006724616.2:c.4345C>T	XP_006724679.1:p.Pro1449Ser
XM_011530849.1:c.4021C>T	XP_011529151.1:p.Pro1341Ser
XM_011530851.1:c.1918C>T	XP_011529153.1:p.Pro640Ser
XM_011530849.2:c.4360C>T	XP_011529151.2:p.Pro1454Ser
XM_017029259.2:c.4351C>T	XP_016884748.1:p.Pro1451Ser
XM_017029260.1:c.4342C>T	XP_016884749.1:p.Pro1448Ser
XM_017029263.2:c.2680C>T	XP_016884752.1:p.Pro894Ser
NM_000495.5:c.4327C>T	NP_000486.1:p.Pro1443Ser
NM_033380.3:c.4345C>T MANE Select	NP_203699.1:p.Pro1449Ser