Canonical Allele Identifier: CA643744418

Gene: COL4A5

Linked Data

• dbSNP Id: rs895940459
• gnomAD v2: X-107683135-G-T
• gnomAD v3: X-108439905-G-T
• gnomAD v4: X-108439905-G-T
• MyVariant Identifiers: chrX:g.107683135G>T (hg19) ; chrX:g.108439905G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439905G>T , CM000685.2:g.108439905G>T	GRCh38
NC_000023.10:g.107683135G>T , CM000685.1:g.107683135G>T	GRCh37
NC_000023.9:g.107569791G>T	NCBI36
NG_011977.1:g.4982G>T
NG_012059.2:g.4570C>A
NG_011977.2:g.4982G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-221G>T MANE Select	ENSP00000331902.7:n.-221G>T
ENST00000328300.10:c.-221G>T	ENSP00000331902.6:n.-221G>T
ENST00000361603.6:c.-221G>T	ENSP00000354505.2:n.-221G>T
ENST00000477429.1:n.62G>T
NM_000495.4:c.-221G>T	NP_000486.1:n.-221G>T
NM_033380.2:c.-221G>T	NP_203699.1:n.-221G>T
XM_005262070.2:c.-221G>T	XP_005262127.1:n.-221G>T
XM_005262072.3:c.-221G>T	XP_005262129.1:n.-221G>T
XM_006724616.2:c.-120-101G>T	XP_006724679.1:n.-120-101G>T
XM_011530850.1:c.-221G>T	XP_011529152.1:n.-221G>T
NM_000495.5:c.-221G>T	NP_000486.1:n.-221G>T
NM_033380.3:c.-221G>T MANE Select	NP_203699.1:n.-221G>T