Canonical Allele Identifier: CA826128527

Gene: COL21A1

Linked Data

• dbSNP Id: rs1471333603
• gnomAD v3: 6-56346044-C-T
• gnomAD v4: 6-56346044-C-T
• MyVariant Identifiers: chr6:g.56210842C>T (hg19) ; chr6:g.56346044C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56346044C>T , CM000668.2:g.56346044C>T	GRCh38
NC_000006.11:g.56210842C>T , CM000668.1:g.56210842C>T	GRCh37
NC_000006.10:g.56318801C>T	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370819.5:c.-39+47927G>A	ENSP00000359855.1:n.-39+47927G>A
XM_011514924.1:c.-39+47927G>A	XP_011513226.1:n.-39+47927G>A
NM_001318752.1:c.-39+47927G>A	NP_001305681.1:n.-39+47927G>A
XM_011514924.2:c.-39+47927G>A	XP_011513226.1:n.-39+47927G>A
NM_001318752.2:c.-39+47927G>A	NP_001305681.1:n.-39+47927G>A