Canonical Allele Identifier: CA2694415491

Gene: COL4A5

Linked Data

• gnomAD v4: X-108694995-G-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108694995G>T , CM000685.2:g.108694995G>T	GRCh38
NC_000023.10:g.107938225G>T , CM000685.1:g.107938225G>T	GRCh37
NC_000023.9:g.107824881G>T	NCBI36
NG_011977.1:g.260072G>T
NG_011977.2:g.260072G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.4821+74G>T MANE Select	ENSP00000331902.7:n.4821+74G>T
ENST00000361603.7:c.4803+74G>T	ENSP00000354505.2:n.4803+74G>T
ENST00000510690.2:n.1315+74G>T
ENST00000644079.1:n.1381G>T
ENST00000328300.10:c.4821+74G>T	ENSP00000331902.6:n.4821+74G>T
ENST00000361603.6:c.4803+74G>T	ENSP00000354505.2:n.4803+74G>T
ENST00000504541.1:c.219+74G>T	ENSP00000424845.1:n.219+74G>T
ENST00000515658.1:c.325-1302G>T
NM_000495.4:c.4803+74G>T	NP_000486.1:n.4803+74G>T
NM_033380.2:c.4821+74G>T	NP_203699.1:n.4821+74G>T
XM_005262070.2:c.4812+74G>T	XP_005262127.1:n.4812+74G>T
XM_006724616.2:c.4821+74G>T	XP_006724679.1:n.4821+74G>T
XM_011530849.1:c.4497+74G>T	XP_011529151.1:n.4497+74G>T
XM_011530851.1:c.2394+74G>T	XP_011529153.1:n.2394+74G>T
XM_011530849.2:c.4836+74G>T	XP_011529151.2:n.4836+74G>T
XM_017029259.2:c.4827+74G>T	XP_016884748.1:n.4827+74G>T
XM_017029260.1:c.4818+74G>T	XP_016884749.1:n.4818+74G>T
XM_017029263.2:c.3156+74G>T	XP_016884752.1:n.3156+74G>T
NM_000495.5:c.4803+74G>T	NP_000486.1:n.4803+74G>T
NM_033380.3:c.4821+74G>T MANE Select	NP_203699.1:n.4821+74G>T