Canonical Allele Identifier: CA517925635

Gene: COL4A5

Linked Data

• gnomAD v4: X-108694834-G-C
• MyVariant Identifiers: chrX:g.107938064G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694834G>C , CM000685.2:g.108694834G>C	GRCh38
NC_000023.10:g.107938064G>C , CM000685.1:g.107938064G>C	GRCh37
NC_000023.9:g.107824720G>C	NCBI36
NG_011977.1:g.259911G>C
NG_011977.2:g.259911G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4734G>C MANE Select	ENSP00000331902.7:p.Val1578=
ENST00000361603.7:c.4716G>C	ENSP00000354505.2:p.Val1572=
ENST00000510690.2:n.1228G>C
ENST00000644079.1:n.1220G>C
ENST00000328300.10:c.4734G>C	ENSP00000331902.6:p.Val1578=
ENST00000361603.6:c.4716G>C	ENSP00000354505.2:p.Val1572=
ENST00000504541.1:c.132G>C	ENSP00000424845.1:p.Val44=
ENST00000515658.1:c.325-1463G>C
NM_000495.4:c.4716G>C	NP_000486.1:p.Val1572=
NM_033380.2:c.4734G>C	NP_203699.1:p.Val1578=
XM_005262070.2:c.4725G>C	XP_005262127.1:p.Val1575=
XM_006724616.2:c.4734G>C	XP_006724679.1:p.Val1578=
XM_011530849.1:c.4410G>C	XP_011529151.1:p.Val1470=
XM_011530851.1:c.2307G>C	XP_011529153.1:p.Val769=
XM_011530849.2:c.4749G>C	XP_011529151.2:p.Val1583=
XM_017029259.2:c.4740G>C	XP_016884748.1:p.Val1580=
XM_017029260.1:c.4731G>C	XP_016884749.1:p.Val1577=
XM_017029263.2:c.3069G>C	XP_016884752.1:p.Val1023=
NM_000495.5:c.4716G>C	NP_000486.1:p.Val1572=
NM_033380.3:c.4734G>C MANE Select	NP_203699.1:p.Val1578=