Canonical Allele Identifier: CA413850083

Gene: COL4A5

Linked Data

• dbSNP Id: rs1169112016
• gnomAD v2: X-107920736-C-T
• gnomAD v4: X-108677506-C-T
• MyVariant Identifiers: chrX:g.107920736C>T (hg19) ; chrX:g.108677506C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108677506C>T , CM000685.2:g.108677506C>T	GRCh38
NC_000023.10:g.107920736C>T , CM000685.1:g.107920736C>T	GRCh37
NC_000023.9:g.107807392C>T	NCBI36
NG_011977.1:g.242583C>T
NG_011977.2:g.242583C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000328300.11:c.3815C>T MANE Select	ENSP00000331902.7:p.Pro1272Leu
ENST00000361603.7:c.3797C>T	ENSP00000354505.2:p.Pro1266Leu
ENST00000510690.2:n.309C>T
ENST00000328300.10:c.3815C>T	ENSP00000331902.6:p.Pro1272Leu
ENST00000361603.6:c.3797C>T	ENSP00000354505.2:p.Pro1266Leu
ENST00000489230.1:n.218C>T
ENST00000510690.1:n.309C>T
NM_000495.4:c.3797C>T	NP_000486.1:p.Pro1266Leu
NM_033380.2:c.3815C>T	NP_203699.1:p.Pro1272Leu
XM_005262070.2:c.3806C>T	XP_005262127.1:p.Pro1269Leu
XM_006724616.2:c.3815C>T	XP_006724679.1:p.Pro1272Leu
XM_011530849.1:c.3491C>T	XP_011529151.1:p.Pro1164Leu
XM_011530851.1:c.1388C>T	XP_011529153.1:p.Pro463Leu
XM_011530849.2:c.3830C>T	XP_011529151.2:p.Pro1277Leu
XM_017029259.2:c.3821C>T	XP_016884748.1:p.Pro1274Leu
XM_017029260.1:c.3812C>T	XP_016884749.1:p.Pro1271Leu
XM_017029261.1:c.3830C>T	XP_016884750.1:p.Pro1277Leu
XM_017029263.2:c.2150C>T	XP_016884752.1:p.Pro717Leu
NM_000495.5:c.3797C>T	NP_000486.1:p.Pro1266Leu
NM_033380.3:c.3815C>T MANE Select	NP_203699.1:p.Pro1272Leu