Canonical Allele Identifier: CA394884334

Gene: ABCC6

Linked Data

• dbSNP Id: rs1316729159
• gnomAD v2: 16-16248491-T-C
• gnomAD v4: 16-16154634-T-C
• MyVariant Identifiers: chr16:g.16248491T>C (hg19) ; chr16:g.16154634T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154634T>C , CM000678.2:g.16154634T>C	GRCh38
NC_000016.9:g.16248491T>C , CM000678.1:g.16248491T>C	GRCh37
NC_000016.8:g.16155992T>C	NCBI36
NG_007558.2:g.73838A>G
NG_007558.3:g.73984A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.*374A>G	ENSP00000483331.2:n.*374A>G
ENST00000205557.12:c.4202A>G MANE Select	ENSP00000205557.7:p.Asp1401Gly
ENST00000640696.1:c.1016A>G	ENSP00000492197.1:p.Asp339Gly
ENST00000205557.11:c.4202A>G	ENSP00000205557.7:p.Asp1401Gly
ENST00000456970.6:c.3827A>G	ENSP00000405002.2:n.3827A>G
ENST00000576204.5:n.1065A>G
ENST00000622290.4:c.*1411A>G	ENSP00000483331.1:n.*1411A>G
NM_001171.5:c.4202A>G	NP_001162.4:p.Asp1401Gly
XM_011522479.1:c.4169A>G	XP_011520781.1:p.Asp1390Gly
XM_011522480.1:c.3860A>G	XP_011520782.1:p.Asp1287Gly
XM_011522481.1:c.3860A>G	XP_011520783.1:p.Asp1287Gly
XR_933134.1:n.539-5147T>C
NM_001351800.1:c.3860A>G	NP_001338729.1:p.Asp1287Gly
NR_147784.1:n.3864A>G
XM_011522479.2:c.4169A>G	XP_011520781.1:p.Asp1390Gly
XM_011522481.3:c.3860A>G	XP_011520783.1:p.Asp1287Gly
XM_017023212.1:c.4034A>G	XP_016878701.1:p.Asp1345Gly
XM_024450261.1:c.4238A>G	XP_024306029.1:p.Asp1413Gly
NM_001171.6:c.4202A>G MANE Select	NP_001162.5:p.Asp1401Gly