Canonical Allele Identifier: CA139689641

Gene: COL21A1

Linked Data

• dbSNP Id: rs996490034
• gnomAD v3: 6-56345956-A-G
• gnomAD v4: 6-56345956-A-G
• MyVariant Identifiers: chr6:g.56210754A>G (hg19) ; chr6:g.56345956A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.56345956A>G , CM000668.2:g.56345956A>G	GRCh38
NC_000006.11:g.56210754A>G , CM000668.1:g.56210754A>G	GRCh37
NC_000006.10:g.56318713A>G	NCBI36

Transcript Alleles

HGVS	Amino-acid Change
ENST00000370819.5:c.-39+48015T>C	ENSP00000359855.1:n.-39+48015T>C
XM_011514924.1:c.-39+48015T>C	XP_011513226.1:n.-39+48015T>C
NM_001318752.1:c.-39+48015T>C	NP_001305681.1:n.-39+48015T>C
XM_011514924.2:c.-39+48015T>C	XP_011513226.1:n.-39+48015T>C
NM_001318752.2:c.-39+48015T>C	NP_001305681.1:n.-39+48015T>C