Canonical Allele Identifier: CA394884534

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1898496
• ClinVar RCV Id: RCV002573964 ; RCV003308145
• dbSNP Id: rs1411389399
• gnomAD v3: 16-16169724-C-T
• gnomAD v4: 16-16169724-C-T
• MyVariant Identifiers: chr16:g.16263581C>T (hg19) ; chr16:g.16169724C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169724C>T , CM000678.2:g.16169724C>T	GRCh38
NC_000016.9:g.16263581C>T , CM000678.1:g.16263581C>T	GRCh37
NC_000016.8:g.16171082C>T	NCBI36
NG_007558.2:g.58748G>A
NG_007558.3:g.58894G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2917G>A	ENSP00000483331.2:p.Asp973Asn
ENST00000205557.12:c.2917G>A MANE Select	ENSP00000205557.7:p.Asp973Asn
ENST00000205557.11:c.2917G>A	ENSP00000205557.7:p.Asp973Asn
ENST00000456970.6:c.2742G>A	ENSP00000405002.2:n.2742G>A
ENST00000622290.4:c.*126G>A	ENSP00000483331.1:n.*126G>A
NM_001171.5:c.2917G>A	NP_001162.4:p.Asp973Asn
XM_011522479.1:c.2884G>A	XP_011520781.1:p.Asp962Asn
XM_011522480.1:c.2575G>A	XP_011520782.1:p.Asp859Asn
XM_011522481.1:c.2575G>A	XP_011520783.1:p.Asp859Asn
XR_932836.1:n.3152G>A
XR_932837.1:n.3153G>A
XR_932838.1:n.3153G>A
NM_001351800.1:c.2575G>A	NP_001338729.1:p.Asp859Asn
NR_147784.1:n.2779G>A
XM_011522479.2:c.2884G>A	XP_011520781.1:p.Asp962Asn
XM_011522481.3:c.2575G>A	XP_011520783.1:p.Asp859Asn
XM_017023212.1:c.2749G>A	XP_016878701.1:p.Asp917Asn
XM_017023214.1:c.2917G>A	XP_016878703.1:p.Asp973Asn
XM_024450261.1:c.2953G>A	XP_024306029.1:p.Asp985Asn
XR_932836.2:n.3098G>A
XR_932837.3:n.3098G>A
XR_932838.3:n.3098G>A
NM_001171.6:c.2917G>A MANE Select	NP_001162.5:p.Asp973Asn