Canonical Allele Identifier: CA7047132

Gene: COL4A1

Linked Data

• ClinVar Variation Id: 1530631
• ClinVar RCV Id: RCV002089807 ; RCV002498093
• dbSNP Id: rs779198670
• ExAC: 13:110822021 G / A
• gnomAD v2: 13-110822021-G-A
• gnomAD v3: 13-110169674-G-A
• gnomAD v4: 13-110169674-G-A
• MyVariant Identifiers: chr13:g.110822021G>A (hg19) ; chr13:g.110169674G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000013.11:g.110169674G>A , CM000675.2:g.110169674G>A	GRCh38
NC_000013.10:g.110822021G>A , CM000675.1:g.110822021G>A	GRCh37
NC_000013.9:g.109620022G>A	NCBI36
NG_011544.2:g.142476C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000375820.10:c.3831C>T MANE Select	ENSP00000364979.4:p.Pro1277=
ENST00000375820.8:c.3831C>T	ENSP00000364979.4:p.Pro1277=
NM_001845.5:c.3831C>T	NP_001836.3:p.Pro1277=
XM_011521048.1:c.3639C>T	XP_011519350.1:p.Pro1213=
XM_011521048.2:c.3639C>T	XP_011519350.1:p.Pro1213=
NM_001845.6:c.3831C>T MANE Select	NP_001836.3:p.Pro1277=