Canonical Allele Identifier: CA1332861860

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs2073620101
• gnomAD v4: 2-227308813-T-TAC

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227308815_227308816dup , CM000664.2:g.227308815_227308816dup	GRCh38
NC_000002.11:g.228173531_228173532dup , CM000664.1:g.228173531_228173532dup	GRCh37
NC_000002.10:g.227881775_227881776dup	NCBI36
NG_011591.1:g.149251_149252dup , LRG_230:g.149251_149252dup

Transcript Alleles

HGVS	Amino-acid change
ENST00000471862.2:n.1721-84_1721-83dup (COL4A3)
ENST00000684413.1:n.1819_1820dup (COL4A3)
ENST00000396578.8:c.4463-84_4463-83dup (COL4A3) MANE Select	ENSP00000379823.3:n.4463-84_4463-83dup
ENST00000469504.2:c.434-389_434-388dup (COL4A3)	ENSP00000493493.1:n.434-389_434-388dup
ENST00000643388.1:c.149-84_149-83dup (COL4A3)	ENSP00000495177.1:n.149-84_149-83dup
ENST00000396578.7:c.4463-84_4463-83dup (COL4A3)	ENSP00000379823.3:n.4463-84_4463-83dup
ENST00000469504.1:n.149-389_149-388dup (COL4A3)
NM_000091.4:c.4463-84_4463-83dup , LRG_230t1:c.4463-84_4463-83dup (COL4A3)	NP_000082.2:n.4463-84_4463-83dup
NR_102371.1:n.48-3160_48-3159dup (MFF-DT)
XM_005246276.2:c.4463-84_4463-83dup (COL4A3)	XP_005246333.1:n.4463-84_4463-83dup
XM_005246277.2:c.4358-84_4358-83dup (COL4A3)	XP_005246334.1:n.4358-84_4358-83dup
XM_011510555.1:c.4463-84_4463-83dup (COL4A3)	XP_011508857.1:n.4463-84_4463-83dup
XM_011510556.1:c.3224-84_3224-83dup (COL4A3)	XP_011508858.1:n.3224-84_3224-83dup
XR_241280.2:n.4601-389_4601-388dup (COL4A3)
XM_005246277.3:c.4358-84_4358-83dup (COL4A3)	XP_005246334.1:n.4358-84_4358-83dup
XM_011510556.2:c.3224-84_3224-83dup (COL4A3)	XP_011508858.1:n.3224-84_3224-83dup
XR_241280.3:n.4601-389_4601-388dup (COL4A3)
NM_000091.5:c.4463-84_4463-83dup (COL4A3) MANE Select	NP_000082.2:n.4463-84_4463-83dup