Canonical Allele Identifier: CA139689643

Gene: COL21A1

Linked Data

• dbSNP Id: rs771222301
• gnomAD v2: 6-56210765-A-G
• gnomAD v3: 6-56345967-A-G
• gnomAD v4: 6-56345967-A-G
• MyVariant Identifiers: chr6:g.56210765A>G (hg19) ; chr6:g.56345967A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56345967A>G , CM000668.2:g.56345967A>G	GRCh38
NC_000006.11:g.56210765A>G , CM000668.1:g.56210765A>G	GRCh37
NC_000006.10:g.56318724A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid change
ENST00000370819.5:c.-39+48004T>C	ENSP00000359855.1:n.-39+48004T>C
XM_011514924.1:c.-39+48004T>C	XP_011513226.1:n.-39+48004T>C
NM_001318752.1:c.-39+48004T>C	NP_001305681.1:n.-39+48004T>C
XM_011514924.2:c.-39+48004T>C	XP_011513226.1:n.-39+48004T>C
NM_001318752.2:c.-39+48004T>C	NP_001305681.1:n.-39+48004T>C