Canonical Allele Identifier: CA7925606

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1432078
• ClinVar RCV Id: RCV001981921 ; RCV002484635
• dbSNP Id: rs780276741
• ExAC: 16:16257036 A / G
• gnomAD v2: 16-16257036-A-G
• gnomAD v3: 16-16163179-A-G
• gnomAD v4: 16-16163179-A-G
• MyVariant Identifiers: chr16:g.16257036A>G (hg19) ; chr16:g.16163179A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16163179A>G , CM000678.2:g.16163179A>G	GRCh38
NC_000016.9:g.16257036A>G , CM000678.1:g.16257036A>G	GRCh37
NC_000016.8:g.16164537A>G	NCBI36
NG_007558.2:g.65293T>C
NG_007558.3:g.65439T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3320T>C	ENSP00000483331.2:p.Val1107Ala
ENST00000205557.12:c.3320T>C MANE Select	ENSP00000205557.7:p.Val1107Ala
ENST00000640696.1:c.321-1615T>C	ENSP00000492197.1:n.321-1615T>C
ENST00000205557.11:c.3320T>C	ENSP00000205557.7:p.Val1107Ala
ENST00000456970.6:c.3132-1615T>C	ENSP00000405002.2:n.3132-1615T>C
ENST00000622290.4:c.*529T>C	ENSP00000483331.1:n.*529T>C
NM_001171.5:c.3320T>C	NP_001162.4:p.Val1107Ala
XM_011522479.1:c.3287T>C	XP_011520781.1:p.Val1096Ala
XM_011522480.1:c.2978T>C	XP_011520782.1:p.Val993Ala
XM_011522481.1:c.2978T>C	XP_011520783.1:p.Val993Ala
XR_932836.1:n.3555T>C
XR_932837.1:n.3543-1615T>C
XR_932838.1:n.3543-1615T>C
XR_933133.1:n.407+336A>G
XR_933134.1:n.754+336A>G
NM_001351800.1:c.2978T>C	NP_001338729.1:p.Val993Ala
NR_147784.1:n.3169-1615T>C
XM_011522479.2:c.3287T>C	XP_011520781.1:p.Val1096Ala
XM_011522481.3:c.2978T>C	XP_011520783.1:p.Val993Ala
XM_017023212.1:c.3152T>C	XP_016878701.1:p.Val1051Ala
XM_017023214.1:c.3307-1615T>C	XP_016878703.1:n.3307-1615T>C
XM_024450261.1:c.3356T>C	XP_024306029.1:p.Val1119Ala
XR_932836.2:n.3501T>C
XR_932837.3:n.3488-1615T>C
XR_932838.3:n.3488-1615T>C
NM_001171.6:c.3320T>C MANE Select	NP_001162.5:p.Val1107Ala