Canonical Allele Identifier: CA414132759

Gene: COL4A5

Linked Data

• MyVariant Identifiers: chrX:g.107938556G>C (hg19) ; chrX:g.108695326G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108695326G>C , CM000685.2:g.108695326G>C	GRCh38
NC_000023.10:g.107938556G>C , CM000685.1:g.107938556G>C	GRCh37
NC_000023.9:g.107825212G>C	NCBI36
NG_011977.1:g.260403G>C
NG_011977.2:g.260403G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4881G>C MANE Select	ENSP00000331902.7:p.Leu1627Phe
ENST00000361603.7:c.4863G>C	ENSP00000354505.2:p.Leu1621Phe
ENST00000510690.2:n.1375G>C
ENST00000644079.1:n.1712G>C
ENST00000328300.10:c.4881G>C	ENSP00000331902.6:p.Leu1627Phe
ENST00000361603.6:c.4863G>C	ENSP00000354505.2:p.Leu1621Phe
ENST00000504541.1:c.219+405G>C	ENSP00000424845.1:n.219+405G>C
ENST00000515658.1:c.325-971G>C
NM_000495.4:c.4863G>C	NP_000486.1:p.Leu1621Phe
NM_033380.2:c.4881G>C	NP_203699.1:p.Leu1627Phe
XM_005262070.2:c.4872G>C	XP_005262127.1:p.Leu1624Phe
XM_006724616.2:c.4881G>C	XP_006724679.1:p.Leu1627Phe
XM_011530849.1:c.4557G>C	XP_011529151.1:p.Leu1519Phe
XM_011530851.1:c.2454G>C	XP_011529153.1:p.Leu818Phe
XM_011530849.2:c.4896G>C	XP_011529151.2:p.Leu1632Phe
XM_017029259.2:c.4887G>C	XP_016884748.1:p.Leu1629Phe
XM_017029260.1:c.4878G>C	XP_016884749.1:p.Leu1626Phe
XM_017029263.2:c.3216G>C	XP_016884752.1:p.Leu1072Phe
NM_000495.5:c.4863G>C	NP_000486.1:p.Leu1621Phe
NM_033380.3:c.4881G>C MANE Select	NP_203699.1:p.Leu1627Phe