Canonical Allele Identifier: CA278625320

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433346
• ClinVar RCV Id: RCV000499330
• dbSNP Id: rs63751112
• gnomAD v3: 16-16154878-G-A
• gnomAD v4: 16-16154878-G-A
• MyVariant Identifiers: chr16:g.16248735G>A (hg19) ; chr16:g.16154878G>A (hg38)
• PubMed: PMID:15459974

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154878G>A , CM000678.2:g.16154878G>A	GRCh38
NC_000016.9:g.16248735G>A , CM000678.1:g.16248735G>A	GRCh37
NC_000016.8:g.16156236G>A	NCBI36
NG_007558.2:g.73594C>T
NG_007558.3:g.73740C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.899C>T
ENST00000622290.5:c.*208C>T	ENSP00000483331.2:n.*208C>T
ENST00000205557.12:c.4036C>T MANE Select	ENSP00000205557.7:p.Pro1346Ser
ENST00000640696.1:c.850C>T	ENSP00000492197.1:p.Pro284Ser
ENST00000205557.11:c.4036C>T	ENSP00000205557.7:p.Pro1346Ser
ENST00000456970.6:c.3661C>T	ENSP00000405002.2:n.3661C>T
ENST00000576204.5:n.899C>T
ENST00000622290.4:c.*1245C>T	ENSP00000483331.1:n.*1245C>T
NM_001171.5:c.4036C>T	NP_001162.4:p.Pro1346Ser
XM_011522479.1:c.4003C>T	XP_011520781.1:p.Pro1335Ser
XM_011522480.1:c.3694C>T	XP_011520782.1:p.Pro1232Ser
XM_011522481.1:c.3694C>T	XP_011520783.1:p.Pro1232Ser
XR_933134.1:n.539-4903G>A
NM_001351800.1:c.3694C>T	NP_001338729.1:p.Pro1232Ser
NR_147784.1:n.3698C>T
XM_011522479.2:c.4003C>T	XP_011520781.1:p.Pro1335Ser
XM_011522481.3:c.3694C>T	XP_011520783.1:p.Pro1232Ser
XM_017023212.1:c.3868C>T	XP_016878701.1:p.Pro1290Ser
XM_024450261.1:c.4072C>T	XP_024306029.1:p.Pro1358Ser
NM_001171.6:c.4036C>T MANE Select	NP_001162.5:p.Pro1346Ser