Canonical Allele Identifier: CA431671978

Gene: COL4A4

Linked Data

• ClinVar Variation Id: 1086499
• ClinVar RCV Id: RCV001404303
• dbSNP Id: rs1458127052
• gnomAD v2: 2-227872932-G-A
• gnomAD v3: 2-227008216-G-A
• gnomAD v4: 2-227008216-G-A
• MyVariant Identifiers: chr2:g.227872932G>A (hg19) ; chr2:g.227008216G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227008216G>A , CM000664.2:g.227008216G>A	GRCh38
NC_000002.11:g.227872932G>A , CM000664.1:g.227872932G>A	GRCh37
NC_000002.10:g.227581176G>A	NCBI36
NG_011592.1:g.161344C>T , LRG_231:g.161344C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000682098.1:c.213C>T	ENSP00000508331.1:p.Asn71=
ENST00000396625.5:c.4611C>T MANE Select	ENSP00000379866.3:p.Asn1537=
ENST00000396625.3:c.4611C>T	ENSP00000379866.3:p.Asn1537=
NM_000092.4:c.4611C>T , LRG_231t1:c.4611C>T	NP_000083.3:p.Asn1537=
XM_005246281.2:c.4611C>T	XP_005246338.1:p.Asn1537=
XM_005246282.2:c.4056C>T	XP_005246339.1:p.Asn1352=
XM_006712246.2:c.4422C>T	XP_006712309.1:p.Asn1474=
XM_006712249.2:c.4611C>T	XP_006712312.1:p.Asn1537=
XM_006712252.2:c.4216+13832C>T	XP_006712315.1:n.4216+13832C>T
XM_011510557.1:c.4530C>T	XP_011508859.1:p.Asn1510=
XM_011510558.1:c.4503C>T	XP_011508860.1:p.Asn1501=
XM_011510559.1:c.4611C>T	XP_011508861.1:p.Asn1537=
XM_011510560.1:c.4611C>T	XP_011508862.1:p.Asn1537=
XM_011510561.1:c.4611C>T	XP_011508863.1:p.Asn1537=
XM_011510562.1:c.4611C>T	XP_011508864.1:p.Asn1537=
XM_011510563.1:c.4357C>T	XP_011508865.1:p.Arg1453Ter
XM_011510564.1:c.4240C>T	XP_011508866.1:p.Arg1414Ter
XM_011510565.1:c.4216+13832C>T	XP_011508867.1:n.4216+13832C>T
XM_011510566.1:c.4216+13832C>T	XP_011508868.1:n.4216+13832C>T
XM_011510567.1:c.4216+13832C>T	XP_011508869.1:n.4216+13832C>T
XM_011510569.1:c.4216+13832C>T	XP_011508871.1:n.4216+13832C>T
XM_011510570.1:c.4216+13832C>T	XP_011508872.1:n.4216+13832C>T
XM_011510571.1:c.4216+13832C>T	XP_011508873.1:n.4216+13832C>T
XM_011510572.1:c.2937C>T	XP_011508874.1:p.Asn979=
XR_922837.1:n.4921C>T
XR_922838.1:n.4921C>T
XR_922839.1:n.4526+13832C>T
XR_922840.1:n.4526+13832C>T
XM_005246281.3:c.4611C>T	XP_005246338.1:p.Asn1537=
XM_005246282.3:c.4056C>T	XP_005246339.1:p.Asn1352=
XM_006712246.3:c.4422C>T	XP_006712309.1:p.Asn1474=
XM_011510557.2:c.4530C>T	XP_011508859.1:p.Asn1510=
XM_011510558.2:c.4503C>T	XP_011508860.1:p.Asn1501=
XM_011510559.2:c.4611C>T	XP_011508861.1:p.Asn1537=
XM_011510560.2:c.4611C>T	XP_011508862.1:p.Asn1537=
XM_011510561.2:c.4611C>T	XP_011508863.1:p.Asn1537=
XM_011510562.2:c.4611C>T	XP_011508864.1:p.Asn1537=
XM_011510565.2:c.4216+13832C>T	XP_011508867.1:n.4216+13832C>T
XM_011510566.2:c.4216+13832C>T	XP_011508868.1:n.4216+13832C>T
XM_011510567.2:c.4216+13832C>T	XP_011508869.1:n.4216+13832C>T
XM_011510569.2:c.4216+13832C>T	XP_011508871.1:n.4216+13832C>T
XM_011510570.2:c.4216+13832C>T	XP_011508872.1:n.4216+13832C>T
XM_011510572.3:c.2937C>T	XP_011508874.1:p.Asn979=
XM_017003296.1:c.4611C>T	XP_016858785.1:p.Asn1537=
XM_017003297.1:c.4494C>T	XP_016858786.1:p.Asn1498=
XM_017003298.1:c.4611C>T	XP_016858787.1:p.Asn1537=
XM_017003300.1:c.4216+13832C>T	XP_016858789.1:n.4216+13832C>T
XR_001738602.1:n.4937C>T
XR_001738603.1:n.4937C>T
XR_001738604.1:n.4683C>T
XR_001738606.1:n.4542+13832C>T
XR_001738607.1:n.4542+13832C>T
XR_922837.2:n.4937C>T
NM_000092.5:c.4611C>T MANE Select	NP_000083.3:p.Asn1537=