Canonical Allele Identifier: CA414132700

Gene: COL4A5

Linked Data

• gnomAD v4: X-108695297-C-A
• MyVariant Identifiers: chrX:g.107938527C>A (hg19) ; chrX:g.108695297C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695297C>A , CM000685.2:g.108695297C>A	GRCh38
NC_000023.10:g.107938527C>A , CM000685.1:g.107938527C>A	GRCh37
NC_000023.9:g.107825183C>A	NCBI36
NG_011977.1:g.260374C>A
NG_011977.2:g.260374C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4852C>A MANE Select	ENSP00000331902.7:p.Gln1618Lys
ENST00000361603.7:c.4834C>A	ENSP00000354505.2:p.Gln1612Lys
ENST00000510690.2:n.1346C>A
ENST00000644079.1:n.1683C>A
ENST00000328300.10:c.4852C>A	ENSP00000331902.6:p.Gln1618Lys
ENST00000361603.6:c.4834C>A	ENSP00000354505.2:p.Gln1612Lys
ENST00000504541.1:c.219+376C>A	ENSP00000424845.1:n.219+376C>A
ENST00000515658.1:c.325-1000C>A
NM_000495.4:c.4834C>A	NP_000486.1:p.Gln1612Lys
NM_033380.2:c.4852C>A	NP_203699.1:p.Gln1618Lys
XM_005262070.2:c.4843C>A	XP_005262127.1:p.Gln1615Lys
XM_006724616.2:c.4852C>A	XP_006724679.1:p.Gln1618Lys
XM_011530849.1:c.4528C>A	XP_011529151.1:p.Gln1510Lys
XM_011530851.1:c.2425C>A	XP_011529153.1:p.Gln809Lys
XM_011530849.2:c.4867C>A	XP_011529151.2:p.Gln1623Lys
XM_017029259.2:c.4858C>A	XP_016884748.1:p.Gln1620Lys
XM_017029260.1:c.4849C>A	XP_016884749.1:p.Gln1617Lys
XM_017029263.2:c.3187C>A	XP_016884752.1:p.Gln1063Lys
NM_000495.5:c.4834C>A	NP_000486.1:p.Gln1612Lys
NM_033380.3:c.4852C>A MANE Select	NP_203699.1:p.Gln1618Lys