Canonical Allele Identifier: CA10612953

Gene: COL4A4

Linked Data

• ClinVar Variation Id: 334653
• ClinVar RCV Id: RCV000356895
• dbSNP Id: rs192161029
• gnomAD v2: 2-227868103-T-C
• gnomAD v3: 2-227003387-T-C
• gnomAD v4: 2-227003387-T-C
• MyVariant Identifiers: chr2:g.227868103T>C (hg19) ; chr2:g.227003387T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227003387T>C , CM000664.2:g.227003387T>C	GRCh38
NC_000002.11:g.227868103T>C , CM000664.1:g.227868103T>C	GRCh37
NC_000002.10:g.227576347T>C	NCBI36
NG_011592.1:g.166173A>G , LRG_231:g.166173A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000396625.5:c.*3938A>G MANE Select	ENSP00000379866.3:n.*3938A>G
ENST00000396625.3:c.*3938A>G	ENSP00000379866.3:n.*3938A>G
NM_000092.4:c.*3938A>G , LRG_231t1:c.*3938A>G	NP_000083.3:n.*3938A>G
XM_005246281.2:c.*3938A>G	XP_005246338.1:n.*3938A>G
XM_005246282.2:c.*3938A>G	XP_005246339.1:n.*3938A>G
XM_006712246.2:c.*3938A>G	XP_006712309.1:n.*3938A>G
XM_006712249.2:c.4809+4631A>G	XP_006712312.1:n.4809+4631A>G
XM_006712252.2:c.4216+18661A>G	XP_006712315.1:n.4216+18661A>G
XM_011510557.1:c.*3938A>G	XP_011508859.1:n.*3938A>G
XM_011510558.1:c.*3938A>G	XP_011508860.1:n.*3938A>G
XM_011510559.1:c.4809+4631A>G	XP_011508861.1:n.4809+4631A>G
XM_011510560.1:c.4809+4631A>G	XP_011508862.1:n.4809+4631A>G
XM_011510561.1:c.4809+4631A>G	XP_011508863.1:n.4809+4631A>G
XM_011510562.1:c.4809+4631A>G	XP_011508864.1:n.4809+4631A>G
XM_011510565.1:c.4216+18661A>G	XP_011508867.1:n.4216+18661A>G
XM_011510566.1:c.4216+18661A>G	XP_011508868.1:n.4216+18661A>G
XM_011510567.1:c.4216+18661A>G	XP_011508869.1:n.4216+18661A>G
XM_011510569.1:c.4216+18661A>G	XP_011508871.1:n.4216+18661A>G
XM_011510570.1:c.4216+18661A>G	XP_011508872.1:n.4216+18661A>G
XM_011510571.1:c.4216+18661A>G	XP_011508873.1:n.4216+18661A>G
XM_011510572.1:c.*3938A>G	XP_011508874.1:n.*3938A>G
XR_922837.1:n.5119+4631A>G
XR_922838.1:n.5119+4631A>G
XR_922839.1:n.4526+18661A>G
XR_922840.1:n.4526+18661A>G
XM_011510559.2:c.4809+4631A>G	XP_011508861.1:n.4809+4631A>G
XM_011510560.2:c.4809+4631A>G	XP_011508862.1:n.4809+4631A>G
XM_011510561.2:c.4809+4631A>G	XP_011508863.1:n.4809+4631A>G
XM_011510562.2:c.4809+4631A>G	XP_011508864.1:n.4809+4631A>G
XM_011510565.2:c.4216+18661A>G	XP_011508867.1:n.4216+18661A>G
XM_011510566.2:c.4216+18661A>G	XP_011508868.1:n.4216+18661A>G
XM_011510567.2:c.4216+18661A>G	XP_011508869.1:n.4216+18661A>G
XM_011510569.2:c.4216+18661A>G	XP_011508871.1:n.4216+18661A>G
XM_011510570.2:c.4216+18661A>G	XP_011508872.1:n.4216+18661A>G
XM_017003298.1:c.4809+4631A>G	XP_016858787.1:n.4809+4631A>G
XM_017003300.1:c.4216+18661A>G	XP_016858789.1:n.4216+18661A>G
XR_001738602.1:n.5135+4631A>G
XR_001738603.1:n.5135+4631A>G
XR_001738604.1:n.9083A>G
XR_001738606.1:n.4542+18661A>G
XR_001738607.1:n.4542+18661A>G
XR_922837.2:n.5135+4631A>G
NM_000092.5:c.*3938A>G MANE Select	NP_000083.3:n.*3938A>G