Canonical Allele Identifier: CA7925730

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 433524
• ClinVar RCV Id: RCV000499248 ; RCV001865586
• dbSNP Id: rs72657692
• ExAC: 16:16263524 C / T
• gnomAD v2: 16-16263524-C-T
• gnomAD v3: 16-16169667-C-T
• gnomAD v4: 16-16169667-C-T
• MyVariant Identifiers: chr16:g.16263524C>T (hg19) ; chr16:g.16169667C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169667C>T , CM000678.2:g.16169667C>T	GRCh38
NC_000016.9:g.16263524C>T , CM000678.1:g.16263524C>T	GRCh37
NC_000016.8:g.16171025C>T	NCBI36
NG_007558.2:g.58805G>A
NG_007558.3:g.58951G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2974G>A	ENSP00000483331.2:p.Gly992Arg
ENST00000205557.12:c.2974G>A MANE Select	ENSP00000205557.7:p.Gly992Arg
ENST00000205557.11:c.2974G>A	ENSP00000205557.7:p.Gly992Arg
ENST00000456970.6:c.2799G>A	ENSP00000405002.2:n.2799G>A
ENST00000622290.4:c.*183G>A	ENSP00000483331.1:n.*183G>A
NM_001171.5:c.2974G>A	NP_001162.4:p.Gly992Arg
XM_011522479.1:c.2941G>A	XP_011520781.1:p.Gly981Arg
XM_011522480.1:c.2632G>A	XP_011520782.1:p.Gly878Arg
XM_011522481.1:c.2632G>A	XP_011520783.1:p.Gly878Arg
XR_932836.1:n.3209G>A
XR_932837.1:n.3210G>A
XR_932838.1:n.3210G>A
NM_001351800.1:c.2632G>A	NP_001338729.1:p.Gly878Arg
NR_147784.1:n.2836G>A
XM_011522479.2:c.2941G>A	XP_011520781.1:p.Gly981Arg
XM_011522481.3:c.2632G>A	XP_011520783.1:p.Gly878Arg
XM_017023212.1:c.2806G>A	XP_016878701.1:p.Gly936Arg
XM_017023214.1:c.2974G>A	XP_016878703.1:p.Gly992Arg
XM_024450261.1:c.3010G>A	XP_024306029.1:p.Gly1004Arg
XR_932836.2:n.3155G>A
XR_932837.3:n.3155G>A
XR_932838.3:n.3155G>A
NM_001171.6:c.2974G>A MANE Select	NP_001162.5:p.Gly992Arg