Canonical Allele Identifier: CA334063037

Gene: COL4A5

Linked Data

• dbSNP Id: rs1003944709
• gnomAD v4: X-108694902-T-C
• MyVariant Identifiers: chrX:g.107938132T>C (hg19) ; chrX:g.108694902T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694902T>C , CM000685.2:g.108694902T>C	GRCh38
NC_000023.10:g.107938132T>C , CM000685.1:g.107938132T>C	GRCh37
NC_000023.9:g.107824788T>C	NCBI36
NG_011977.1:g.259979T>C
NG_011977.2:g.259979T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4802T>C MANE Select	ENSP00000331902.7:p.Ile1601Thr
ENST00000361603.7:c.4784T>C	ENSP00000354505.2:p.Ile1595Thr
ENST00000510690.2:n.1296T>C
ENST00000644079.1:n.1288T>C
ENST00000328300.10:c.4802T>C	ENSP00000331902.6:p.Ile1601Thr
ENST00000361603.6:c.4784T>C	ENSP00000354505.2:p.Ile1595Thr
ENST00000504541.1:c.200T>C	ENSP00000424845.1:p.Ile67Thr
ENST00000515658.1:c.325-1395T>C
NM_000495.4:c.4784T>C	NP_000486.1:p.Ile1595Thr
NM_033380.2:c.4802T>C	NP_203699.1:p.Ile1601Thr
XM_005262070.2:c.4793T>C	XP_005262127.1:p.Ile1598Thr
XM_006724616.2:c.4802T>C	XP_006724679.1:p.Ile1601Thr
XM_011530849.1:c.4478T>C	XP_011529151.1:p.Ile1493Thr
XM_011530851.1:c.2375T>C	XP_011529153.1:p.Ile792Thr
XM_011530849.2:c.4817T>C	XP_011529151.2:p.Ile1606Thr
XM_017029259.2:c.4808T>C	XP_016884748.1:p.Ile1603Thr
XM_017029260.1:c.4799T>C	XP_016884749.1:p.Ile1600Thr
XM_017029263.2:c.3137T>C	XP_016884752.1:p.Ile1046Thr
NM_000495.5:c.4784T>C	NP_000486.1:p.Ile1595Thr
NM_033380.3:c.4802T>C MANE Select	NP_203699.1:p.Ile1601Thr