Canonical Allele Identifier: CA1089304566

Gene: COL21A1

Linked Data

• dbSNP Id: rs1765589786
• gnomAD v3: 6-56346019-G-A
• gnomAD v4: 6-56346019-G-A

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56346019G>A , CM000668.2:g.56346019G>A	GRCh38
NC_000006.11:g.56210817G>A , CM000668.1:g.56210817G>A	GRCh37
NC_000006.10:g.56318776G>A	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000370819.5:c.-39+47952C>T	ENSP00000359855.1:n.-39+47952C>T
XM_011514924.1:c.-39+47952C>T	XP_011513226.1:n.-39+47952C>T
NM_001318752.1:c.-39+47952C>T	NP_001305681.1:n.-39+47952C>T
XM_011514924.2:c.-39+47952C>T	XP_011513226.1:n.-39+47952C>T
NM_001318752.2:c.-39+47952C>T	NP_001305681.1:n.-39+47952C>T