Canonical Allele Identifier: CA2694438205

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439914-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439914T>C , CM000685.2:g.108439914T>C	GRCh38
NC_000023.10:g.107683144T>C , CM000685.1:g.107683144T>C	GRCh37
NC_000023.9:g.107569800T>C	NCBI36
NG_011977.1:g.4991T>C
NG_012059.2:g.4561A>G
NG_011977.2:g.4991T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-212T>C MANE Select	ENSP00000331902.7:n.-212T>C
ENST00000328300.10:c.-212T>C	ENSP00000331902.6:n.-212T>C
ENST00000361603.6:c.-212T>C	ENSP00000354505.2:n.-212T>C
ENST00000477429.1:n.71T>C
NM_000495.4:c.-212T>C	NP_000486.1:n.-212T>C
NM_033380.2:c.-212T>C	NP_203699.1:n.-212T>C
XM_005262070.2:c.-212T>C	XP_005262127.1:n.-212T>C
XM_005262072.3:c.-212T>C	XP_005262129.1:n.-212T>C
XM_006724616.2:c.-120-92T>C	XP_006724679.1:n.-120-92T>C
XM_011530850.1:c.-212T>C	XP_011529152.1:n.-212T>C
NM_000495.5:c.-212T>C	NP_000486.1:n.-212T>C
NM_033380.3:c.-212T>C MANE Select	NP_203699.1:n.-212T>C