Canonical Allele Identifier: CA278636004

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2629266
• ClinVar RCV Id: RCV004529742
• dbSNP Id: rs761565275
• gnomAD v2: 16-16263539-G-A
• gnomAD v3: 16-16169682-G-A
• gnomAD v4: 16-16169682-G-A
• MyVariant Identifiers: chr16:g.16263539G>A (hg19) ; chr16:g.16169682G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169682G>A , CM000678.2:g.16169682G>A	GRCh38
NC_000016.9:g.16263539G>A , CM000678.1:g.16263539G>A	GRCh37
NC_000016.8:g.16171040G>A	NCBI36
NG_007558.2:g.58790C>T
NG_007558.3:g.58936C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2959C>T	ENSP00000483331.2:p.Arg987Cys
ENST00000205557.12:c.2959C>T MANE Select	ENSP00000205557.7:p.Arg987Cys
ENST00000205557.11:c.2959C>T	ENSP00000205557.7:p.Arg987Cys
ENST00000456970.6:c.2784C>T	ENSP00000405002.2:n.2784C>T
ENST00000622290.4:c.*168C>T	ENSP00000483331.1:n.*168C>T
NM_001171.5:c.2959C>T	NP_001162.4:p.Arg987Cys
XM_011522479.1:c.2926C>T	XP_011520781.1:p.Arg976Cys
XM_011522480.1:c.2617C>T	XP_011520782.1:p.Arg873Cys
XM_011522481.1:c.2617C>T	XP_011520783.1:p.Arg873Cys
XR_932836.1:n.3194C>T
XR_932837.1:n.3195C>T
XR_932838.1:n.3195C>T
NM_001351800.1:c.2617C>T	NP_001338729.1:p.Arg873Cys
NR_147784.1:n.2821C>T
XM_011522479.2:c.2926C>T	XP_011520781.1:p.Arg976Cys
XM_011522481.3:c.2617C>T	XP_011520783.1:p.Arg873Cys
XM_017023212.1:c.2791C>T	XP_016878701.1:p.Arg931Cys
XM_017023214.1:c.2959C>T	XP_016878703.1:p.Arg987Cys
XM_024450261.1:c.2995C>T	XP_024306029.1:p.Arg999Cys
XR_932836.2:n.3140C>T
XR_932837.3:n.3140C>T
XR_932838.3:n.3140C>T
NM_001171.6:c.2959C>T MANE Select	NP_001162.5:p.Arg987Cys