Canonical Allele Identifier: CA413854044

Gene: COL4A5

Linked Data

• dbSNP Id: rs1481737163
• gnomAD v2: X-107930753-C-A
• gnomAD v3: X-108687523-C-A
• gnomAD v4: X-108687523-C-A
• MyVariant Identifiers: chrX:g.107930753C>A (hg19) ; chrX:g.108687523C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108687523C>A , CM000685.2:g.108687523C>A	GRCh38
NC_000023.10:g.107930753C>A , CM000685.1:g.107930753C>A	GRCh37
NC_000023.9:g.107817409C>A	NCBI36
NG_011977.1:g.252600C>A
NG_011977.2:g.252600C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4357C>A MANE Select	ENSP00000331902.7:p.Gln1453Lys
ENST00000361603.7:c.4339C>A	ENSP00000354505.2:p.Gln1447Lys
ENST00000510690.2:n.851C>A
ENST00000328300.10:c.4357C>A	ENSP00000331902.6:p.Gln1453Lys
ENST00000361603.6:c.4339C>A	ENSP00000354505.2:p.Gln1447Lys
ENST00000515658.1:c.153C>A
NM_000495.4:c.4339C>A	NP_000486.1:p.Gln1447Lys
NM_033380.2:c.4357C>A	NP_203699.1:p.Gln1453Lys
XM_005262070.2:c.4348C>A	XP_005262127.1:p.Gln1450Lys
XM_006724616.2:c.4357C>A	XP_006724679.1:p.Gln1453Lys
XM_011530849.1:c.4033C>A	XP_011529151.1:p.Gln1345Lys
XM_011530851.1:c.1930C>A	XP_011529153.1:p.Gln644Lys
XM_011530849.2:c.4372C>A	XP_011529151.2:p.Gln1458Lys
XM_017029259.2:c.4363C>A	XP_016884748.1:p.Gln1455Lys
XM_017029260.1:c.4354C>A	XP_016884749.1:p.Gln1452Lys
XM_017029263.2:c.2692C>A	XP_016884752.1:p.Gln898Lys
NM_000495.5:c.4339C>A	NP_000486.1:p.Gln1447Lys
NM_033380.3:c.4357C>A MANE Select	NP_203699.1:p.Gln1453Lys