Canonical Allele Identifier: CA394887526

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2003623
• ClinVar RCV Id: RCV002811321
• gnomAD v4: 16-16177463-C-T
• MyVariant Identifiers: chr16:g.16271320C>T (hg19) ; chr16:g.16177463C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16177463C>T , CM000678.2:g.16177463C>T	GRCh38
NC_000016.9:g.16271320C>T , CM000678.1:g.16271320C>T	GRCh37
NC_000016.8:g.16178821C>T	NCBI36
NG_007558.2:g.51009G>A
NG_007558.3:g.51155G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2579G>A	ENSP00000483331.2:p.Arg860Lys
ENST00000205557.12:c.2579G>A MANE Select	ENSP00000205557.7:p.Arg860Lys
ENST00000205557.11:c.2579G>A	ENSP00000205557.7:p.Arg860Lys
ENST00000456970.6:c.2415+1335G>A	ENSP00000405002.2:n.2415+1335G>A
ENST00000576683.1:n.59G>A
ENST00000622290.4:c.2415+1335G>A	ENSP00000483331.1:n.2415+1335G>A
NM_001171.5:c.2579G>A	NP_001162.4:p.Arg860Lys
XM_011522479.1:c.2546G>A	XP_011520781.1:p.Arg849Lys
XM_011522480.1:c.2237G>A	XP_011520782.1:p.Arg746Lys
XM_011522481.1:c.2237G>A	XP_011520783.1:p.Arg746Lys
XM_011522482.1:c.2579G>A	XP_011520784.1:p.Arg860Lys
XR_932836.1:n.2814G>A
XR_932837.1:n.2815G>A
XR_932838.1:n.2815G>A
NM_001351800.1:c.2237G>A	NP_001338729.1:p.Arg746Lys
NR_147784.1:n.2452+1335G>A
XM_011522479.2:c.2546G>A	XP_011520781.1:p.Arg849Lys
XM_011522481.3:c.2237G>A	XP_011520783.1:p.Arg746Lys
XM_011522482.3:c.2579G>A	XP_011520784.1:p.Arg860Lys
XM_017023212.1:c.2411G>A	XP_016878701.1:p.Arg804Lys
XM_017023214.1:c.2579G>A	XP_016878703.1:p.Arg860Lys
XM_024450261.1:c.2615G>A	XP_024306029.1:p.Arg872Lys
XR_932836.2:n.2760G>A
XR_932837.3:n.2760G>A
XR_932838.3:n.2760G>A
NM_001171.6:c.2579G>A MANE Select	NP_001162.5:p.Arg860Lys