Canonical Allele Identifier: CA414132928

Gene: COL4A5

Linked Data

• dbSNP Id: rs1444678890
• gnomAD v2: X-107938630-G-C
• gnomAD v4: X-108695400-G-C
• MyVariant Identifiers: chrX:g.107938630G>C (hg19) ; chrX:g.108695400G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695400G>C , CM000685.2:g.108695400G>C	GRCh38
NC_000023.10:g.107938630G>C , CM000685.1:g.107938630G>C	GRCh37
NC_000023.9:g.107825286G>C	NCBI36
NG_011977.1:g.260477G>C
NG_011977.2:g.260477G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4955G>C MANE Select	ENSP00000331902.7:p.Ser1652Thr
ENST00000361603.7:c.4937G>C	ENSP00000354505.2:p.Ser1646Thr
ENST00000510690.2:n.1449G>C
ENST00000644079.1:n.1786G>C
ENST00000328300.10:c.4955G>C	ENSP00000331902.6:p.Ser1652Thr
ENST00000361603.6:c.4937G>C	ENSP00000354505.2:p.Ser1646Thr
ENST00000504541.1:c.219+479G>C	ENSP00000424845.1:n.219+479G>C
ENST00000515658.1:c.325-897G>C
NM_000495.4:c.4937G>C	NP_000486.1:p.Ser1646Thr
NM_033380.2:c.4955G>C	NP_203699.1:p.Ser1652Thr
XM_005262070.2:c.4946G>C	XP_005262127.1:p.Ser1649Thr
XM_006724616.2:c.4955G>C	XP_006724679.1:p.Ser1652Thr
XM_011530849.1:c.4631G>C	XP_011529151.1:p.Ser1544Thr
XM_011530851.1:c.2528G>C	XP_011529153.1:p.Ser843Thr
XM_011530849.2:c.4970G>C	XP_011529151.2:p.Ser1657Thr
XM_017029259.2:c.4961G>C	XP_016884748.1:p.Ser1654Thr
XM_017029260.1:c.4952G>C	XP_016884749.1:p.Ser1651Thr
XM_017029263.2:c.3290G>C	XP_016884752.1:p.Ser1097Thr
NM_000495.5:c.4937G>C	NP_000486.1:p.Ser1646Thr
NM_033380.3:c.4955G>C MANE Select	NP_203699.1:p.Ser1652Thr