Canonical Allele Identifier: CA413848970

Gene: COL4A5

Linked Data

• dbSNP Id: rs1292891149
• gnomAD v2: X-107911678-C-T
• MyVariant Identifiers: chrX:g.107911678C>T (hg19) ; chrX:g.108668448C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108668448C>T , CM000685.2:g.108668448C>T	GRCh38
NC_000023.10:g.107911678C>T , CM000685.1:g.107911678C>T	GRCh37
NC_000023.9:g.107798334C>T	NCBI36
NG_011977.1:g.233525C>T
NG_011977.2:g.233525C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.3734C>T MANE Select	ENSP00000331902.7:p.Pro1245Leu
ENST00000361603.7:c.3734C>T	ENSP00000354505.2:p.Pro1245Leu
ENST00000328300.10:c.3734C>T	ENSP00000331902.6:p.Pro1245Leu
ENST00000361603.6:c.3734C>T	ENSP00000354505.2:p.Pro1245Leu
NM_000495.4:c.3734C>T	NP_000486.1:p.Pro1245Leu
NM_033380.2:c.3734C>T	NP_203699.1:p.Pro1245Leu
XM_005262070.2:c.3734C>T	XP_005262127.1:p.Pro1245Leu
XM_006724616.2:c.3734C>T	XP_006724679.1:p.Pro1245Leu
XM_011530849.1:c.3410C>T	XP_011529151.1:p.Pro1137Leu
XM_011530850.1:c.3734C>T	XP_011529152.1:p.Pro1245Leu
XM_011530851.1:c.1307C>T	XP_011529153.1:p.Pro436Leu
XM_011530849.2:c.3749C>T	XP_011529151.2:p.Pro1250Leu
XM_017029259.2:c.3749C>T	XP_016884748.1:p.Pro1250Leu
XM_017029260.1:c.3749C>T	XP_016884749.1:p.Pro1250Leu
XM_017029261.1:c.3749C>T	XP_016884750.1:p.Pro1250Leu
XM_017029262.2:c.3749C>T	XP_016884751.1:p.Pro1250Leu
XM_017029263.2:c.2069C>T	XP_016884752.1:p.Pro690Leu
NM_000495.5:c.3734C>T	NP_000486.1:p.Pro1245Leu
NM_033380.3:c.3734C>T MANE Select	NP_203699.1:p.Pro1245Leu