Canonical Allele Identifier: CA10489420

Gene: COL4A5

Linked Data

• ClinVar Variation Id: 1120676
• ClinVar RCV Id: RCV001450695
• dbSNP Id: rs747959168
• ExAC: X:107938091 C / T
• gnomAD v2: X-107938091-C-T
• gnomAD v3: X-108694861-C-T
• gnomAD v4: X-108694861-C-T
• MyVariant Identifiers: chrX:g.107938091C>T (hg19) ; chrX:g.108694861C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694861C>T , CM000685.2:g.108694861C>T	GRCh38
NC_000023.10:g.107938091C>T , CM000685.1:g.107938091C>T	GRCh37
NC_000023.9:g.107824747C>T	NCBI36
NG_011977.1:g.259938C>T
NG_011977.2:g.259938C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4761C>T MANE Select	ENSP00000331902.7:p.Ile1587=
ENST00000361603.7:c.4743C>T	ENSP00000354505.2:p.Ile1581=
ENST00000510690.2:n.1255C>T
ENST00000644079.1:n.1247C>T
ENST00000328300.10:c.4761C>T	ENSP00000331902.6:p.Ile1587=
ENST00000361603.6:c.4743C>T	ENSP00000354505.2:p.Ile1581=
ENST00000504541.1:c.159C>T	ENSP00000424845.1:p.Ile53=
ENST00000515658.1:c.325-1436C>T
NM_000495.4:c.4743C>T	NP_000486.1:p.Ile1581=
NM_033380.2:c.4761C>T	NP_203699.1:p.Ile1587=
XM_005262070.2:c.4752C>T	XP_005262127.1:p.Ile1584=
XM_006724616.2:c.4761C>T	XP_006724679.1:p.Ile1587=
XM_011530849.1:c.4437C>T	XP_011529151.1:p.Ile1479=
XM_011530851.1:c.2334C>T	XP_011529153.1:p.Ile778=
XM_011530849.2:c.4776C>T	XP_011529151.2:p.Ile1592=
XM_017029259.2:c.4767C>T	XP_016884748.1:p.Ile1589=
XM_017029260.1:c.4758C>T	XP_016884749.1:p.Ile1586=
XM_017029263.2:c.3096C>T	XP_016884752.1:p.Ile1032=
NM_000495.5:c.4743C>T	NP_000486.1:p.Ile1581=
NM_033380.3:c.4761C>T MANE Select	NP_203699.1:p.Ile1587=