Canonical Allele Identifier: CA334055325

Gene: COL4A5

Linked Data

• dbSNP Id: rs751841930
• gnomAD v3: X-108681801-A-C
• gnomAD v4: X-108681801-A-C
• MyVariant Identifiers: chrX:g.107925031A>C (hg19) ; chrX:g.108681801A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108681801A>C , CM000685.2:g.108681801A>C	GRCh38
NC_000023.10:g.107925031A>C , CM000685.1:g.107925031A>C	GRCh37
NC_000023.9:g.107811687A>C	NCBI36
NG_011977.1:g.246878A>C
NG_011977.2:g.246878A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.4129A>C MANE Select	ENSP00000331902.7:p.Ile1377Leu
ENST00000361603.7:c.4111A>C	ENSP00000354505.2:p.Ile1371Leu
ENST00000510690.2:n.623A>C
ENST00000328300.10:c.4129A>C	ENSP00000331902.6:p.Ile1377Leu
ENST00000361603.6:c.4111A>C	ENSP00000354505.2:p.Ile1371Leu
ENST00000489230.1:n.532A>C
NM_000495.4:c.4111A>C	NP_000486.1:p.Ile1371Leu
NM_033380.2:c.4129A>C	NP_203699.1:p.Ile1377Leu
XM_005262070.2:c.4120A>C	XP_005262127.1:p.Ile1374Leu
XM_006724616.2:c.4129A>C	XP_006724679.1:p.Ile1377Leu
XM_011530849.1:c.3805A>C	XP_011529151.1:p.Ile1269Leu
XM_011530851.1:c.1702A>C	XP_011529153.1:p.Ile568Leu
XM_011530849.2:c.4144A>C	XP_011529151.2:p.Ile1382Leu
XM_017029259.2:c.4135A>C	XP_016884748.1:p.Ile1379Leu
XM_017029260.1:c.4126A>C	XP_016884749.1:p.Ile1376Leu
XM_017029263.2:c.2464A>C	XP_016884752.1:p.Ile822Leu
NM_000495.5:c.4111A>C	NP_000486.1:p.Ile1371Leu
NM_033380.3:c.4129A>C MANE Select	NP_203699.1:p.Ile1377Leu