Canonical Allele Identifier: CA2144014
Community Standard Title: NM_000092.5(COL4A4):c.4945A>G (p.Ser1649Gly)
Gene: COL4A4 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.227007453T>C , CM000664.2:g.227007453T>C GRCh38
NC_000002.11:g.227872169T>C , CM000664.1:g.227872169T>C GRCh37
NC_000002.10:g.227580413T>C NCBI36
NG_011592.1:g.162107A>G , LRG_231:g.162107A>G

Transcript Alleles

HGVS Amino-acid Change
NM_000092.5:c.4945A>G MANE Select NP_000083.3:p.Ser1649Gly
ENST00000396625.5:c.4945A>G MANE Select ENSP00000379866.3:p.Ser1649Gly
NM_000092.4:c.4945A>G , LRG_231t1:c.4945A>G NP_000083.3:p.Ser1649Gly
ENST00000396625.3:c.4945A>G ENSP00000379866.3:p.Ser1649Gly
ENST00000682098.1:c.547A>G ENSP00000508331.1:p.Ser183Gly
XM_005246281.2:c.4945A>G XP_005246338.1:p.Ser1649Gly
XM_005246281.3:c.4945A>G XP_005246338.1:p.Ser1649Gly
XM_005246282.2:c.4390A>G XP_005246339.1:p.Ser1464Gly
XM_005246282.3:c.4390A>G XP_005246339.1:p.Ser1464Gly
XM_006712246.2:c.4756A>G XP_006712309.1:p.Ser1586Gly
XM_006712246.3:c.4756A>G XP_006712309.1:p.Ser1586Gly
XM_006712249.2:c.4809+565A>G XP_006712312.1:n.4809+565A>G
XM_006712252.2:c.4216+14595A>G XP_006712315.1:n.4216+14595A>G
XM_011510557.1:c.4864A>G XP_011508859.1:p.Ser1622Gly
XM_011510557.2:c.4864A>G XP_011508859.1:p.Ser1622Gly
XM_011510558.1:c.4837A>G XP_011508860.1:p.Ser1613Gly
XM_011510558.2:c.4837A>G XP_011508860.1:p.Ser1613Gly
XM_011510559.1:c.4809+565A>G XP_011508861.1:n.4809+565A>G
XM_011510559.2:c.4809+565A>G XP_011508861.1:n.4809+565A>G
XM_011510560.1:c.4809+565A>G XP_011508862.1:n.4809+565A>G
XM_011510560.2:c.4809+565A>G XP_011508862.1:n.4809+565A>G
XM_011510561.1:c.4809+565A>G XP_011508863.1:n.4809+565A>G
XM_011510561.2:c.4809+565A>G XP_011508863.1:n.4809+565A>G
XM_011510562.1:c.4809+565A>G XP_011508864.1:n.4809+565A>G
XM_011510562.2:c.4809+565A>G XP_011508864.1:n.4809+565A>G
XM_011510565.1:c.4216+14595A>G XP_011508867.1:n.4216+14595A>G
XM_011510565.2:c.4216+14595A>G XP_011508867.1:n.4216+14595A>G
XM_011510566.1:c.4216+14595A>G XP_011508868.1:n.4216+14595A>G
XM_011510566.2:c.4216+14595A>G XP_011508868.1:n.4216+14595A>G
XM_011510567.1:c.4216+14595A>G XP_011508869.1:n.4216+14595A>G
XM_011510567.2:c.4216+14595A>G XP_011508869.1:n.4216+14595A>G
XM_011510569.1:c.4216+14595A>G XP_011508871.1:n.4216+14595A>G
XM_011510569.2:c.4216+14595A>G XP_011508871.1:n.4216+14595A>G
XM_011510570.1:c.4216+14595A>G XP_011508872.1:n.4216+14595A>G
XM_011510570.2:c.4216+14595A>G XP_011508872.1:n.4216+14595A>G
XM_011510571.1:c.4216+14595A>G XP_011508873.1:n.4216+14595A>G
XM_011510572.1:c.3271A>G XP_011508874.1:p.Ser1091Gly
XM_011510572.3:c.3271A>G XP_011508874.1:p.Ser1091Gly
XM_017003297.1:c.4828A>G XP_016858786.1:p.Ser1610Gly
XM_017003298.1:c.4809+565A>G XP_016858787.1:n.4809+565A>G
XM_017003300.1:c.4216+14595A>G XP_016858789.1:n.4216+14595A>G
XR_001738602.1:n.5135+565A>G
XR_001738603.1:n.5135+565A>G
XR_001738604.1:n.5017A>G
XR_001738606.1:n.4542+14595A>G
XR_001738607.1:n.4542+14595A>G
XR_922837.1:n.5119+565A>G
XR_922837.2:n.5135+565A>G
XR_922838.1:n.5119+565A>G
XR_922839.1:n.4526+14595A>G
XR_922840.1:n.4526+14595A>G