Canonical Allele Identifier: CA7925753

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 377414
• ClinVar RCV Id: RCV000436842 ; RCV000499097 ; RCV000886260 ; RCV002253402 ; RCV002253403
• dbSNP Id: rs72664287
• ExAC: 16:16263594 C / T
• gnomAD v2: 16-16263594-C-T
• gnomAD v3: 16-16169737-C-T
• gnomAD v4: 16-16169737-C-T
• MyVariant Identifiers: chr16:g.16263594C>T (hg19) ; chr16:g.16169737C>T (hg38)
• PubMed: PMID:12673275

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169737C>T , CM000678.2:g.16169737C>T	GRCh38
NC_000016.9:g.16263594C>T , CM000678.1:g.16263594C>T	GRCh37
NC_000016.8:g.16171095C>T	NCBI36
NG_007558.2:g.58735G>A
NG_007558.3:g.58881G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2904G>A	ENSP00000483331.2:p.Leu968=
ENST00000205557.12:c.2904G>A MANE Select	ENSP00000205557.7:p.Leu968=
ENST00000205557.11:c.2904G>A	ENSP00000205557.7:p.Leu968=
ENST00000456970.6:c.2729G>A	ENSP00000405002.2:n.2729G>A
ENST00000622290.4:c.*113G>A	ENSP00000483331.1:n.*113G>A
NM_001171.5:c.2904G>A	NP_001162.4:p.Leu968=
XM_011522479.1:c.2871G>A	XP_011520781.1:p.Leu957=
XM_011522480.1:c.2562G>A	XP_011520782.1:p.Leu854=
XM_011522481.1:c.2562G>A	XP_011520783.1:p.Leu854=
XR_932836.1:n.3139G>A
XR_932837.1:n.3140G>A
XR_932838.1:n.3140G>A
NM_001351800.1:c.2562G>A	NP_001338729.1:p.Leu854=
NR_147784.1:n.2766G>A
XM_011522479.2:c.2871G>A	XP_011520781.1:p.Leu957=
XM_011522481.3:c.2562G>A	XP_011520783.1:p.Leu854=
XM_017023212.1:c.2736G>A	XP_016878701.1:p.Leu912=
XM_017023214.1:c.2904G>A	XP_016878703.1:p.Leu968=
XM_024450261.1:c.2940G>A	XP_024306029.1:p.Leu980=
XR_932836.2:n.3085G>A
XR_932837.3:n.3085G>A
XR_932838.3:n.3085G>A
NM_001171.6:c.2904G>A MANE Select	NP_001162.5:p.Leu968=