Canonical Allele Identifier: CA2694438203

Gene: COL4A5

Linked Data

• gnomAD v4: X-108439911-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000023.11:g.108439911C>T , CM000685.2:g.108439911C>T	GRCh38
NC_000023.10:g.107683141C>T , CM000685.1:g.107683141C>T	GRCh37
NC_000023.9:g.107569797C>T	NCBI36
NG_011977.1:g.4988C>T
NG_012059.2:g.4564G>A
NG_011977.2:g.4988C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000328300.11:c.-215C>T MANE Select	ENSP00000331902.7:n.-215C>T
ENST00000328300.10:c.-215C>T	ENSP00000331902.6:n.-215C>T
ENST00000361603.6:c.-215C>T	ENSP00000354505.2:n.-215C>T
ENST00000477429.1:n.68C>T
NM_000495.4:c.-215C>T	NP_000486.1:n.-215C>T
NM_033380.2:c.-215C>T	NP_203699.1:n.-215C>T
XM_005262070.2:c.-215C>T	XP_005262127.1:n.-215C>T
XM_005262072.3:c.-215C>T	XP_005262129.1:n.-215C>T
XM_006724616.2:c.-120-95C>T	XP_006724679.1:n.-120-95C>T
XM_011530850.1:c.-215C>T	XP_011529152.1:n.-215C>T
NM_000495.5:c.-215C>T	NP_000486.1:n.-215C>T
NM_033380.3:c.-215C>T MANE Select	NP_203699.1:n.-215C>T