Canonical Allele Identifier: CA66608061

Gene: COL4A3 MFF-DT

Linked Data

• dbSNP Id: rs200125890
• gnomAD v4: 2-227293208-G-C
• MyVariant Identifiers: chr2:g.228157924G>C (hg19) ; chr2:g.227293208G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.227293208G>C , CM000664.2:g.227293208G>C	GRCh38
NC_000002.11:g.228157924G>C , CM000664.1:g.228157924G>C	GRCh37
NC_000002.10:g.227866168G>C	NCBI36
NG_011591.1:g.133644G>C , LRG_230:g.133644G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000396578.8:c.3228G>C (COL4A3) MANE Select	ENSP00000379823.3:p.Pro1076=
ENST00000304990.8:c.339G>C (COL4A3)	ENSP00000302781.8:p.Pro113=
ENST00000396578.7:c.3228G>C (COL4A3)	ENSP00000379823.3:p.Pro1076=
NM_000091.4:c.3228G>C , LRG_230t1:c.3228G>C (COL4A3)	NP_000082.2:p.Pro1076=
NR_102371.1:n.244-11419C>G (MFF-DT)
XM_005246276.2:c.3228G>C (COL4A3)	XP_005246333.1:p.Pro1076=
XM_005246277.2:c.3123G>C (COL4A3)	XP_005246334.1:p.Pro1041=
XM_005246280.2:c.3151G>C (COL4A3)	XP_005246337.1:p.Gly1051Arg
XM_006712245.2:c.3228G>C (COL4A3)	XP_006712308.1:p.Pro1076=
XM_011510555.1:c.3228G>C (COL4A3)	XP_011508857.1:p.Pro1076=
XM_011510556.1:c.1989G>C (COL4A3)	XP_011508858.1:p.Pro663=
XR_241280.2:n.3366G>C (COL4A3)
XM_005246277.3:c.3123G>C (COL4A3)	XP_005246334.1:p.Pro1041=
XM_005246280.3:c.3151G>C (COL4A3)	XP_005246337.1:p.Gly1051Arg
XM_006712245.3:c.3228G>C (COL4A3)	XP_006712308.1:p.Pro1076=
XM_011510556.2:c.1989G>C (COL4A3)	XP_011508858.1:p.Pro663=
XM_017003295.1:c.3228G>C (COL4A3)	XP_016858784.1:p.Pro1076=
XR_001738601.1:n.3366G>C (COL4A3)
XR_241280.3:n.3366G>C (COL4A3)
NM_000091.5:c.3228G>C (COL4A3) MANE Select	NP_000082.2:p.Pro1076=