Canonical Allele Identifier: CA278636203

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 1368913
• ClinVar RCV Id: RCV001894772 ; RCV002482563
• dbSNP Id: rs987609654
• gnomAD v3: 16-16169759-G-A
• gnomAD v4: 16-16169759-G-A
• MyVariant Identifiers: chr16:g.16263616G>A (hg19) ; chr16:g.16169759G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169759G>A , CM000678.2:g.16169759G>A	GRCh38
NC_000016.9:g.16263616G>A , CM000678.1:g.16263616G>A	GRCh37
NC_000016.8:g.16171117G>A	NCBI36
NG_007558.2:g.58713C>T
NG_007558.3:g.58859C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2882C>T	ENSP00000483331.2:p.Ser961Phe
ENST00000205557.12:c.2882C>T MANE Select	ENSP00000205557.7:p.Ser961Phe
ENST00000205557.11:c.2882C>T	ENSP00000205557.7:p.Ser961Phe
ENST00000456970.6:c.2707C>T	ENSP00000405002.2:n.2707C>T
ENST00000622290.4:c.*91C>T	ENSP00000483331.1:n.*91C>T
NM_001171.5:c.2882C>T	NP_001162.4:p.Ser961Phe
XM_011522479.1:c.2849C>T	XP_011520781.1:p.Ser950Phe
XM_011522480.1:c.2540C>T	XP_011520782.1:p.Ser847Phe
XM_011522481.1:c.2540C>T	XP_011520783.1:p.Ser847Phe
XR_932836.1:n.3117C>T
XR_932837.1:n.3118C>T
XR_932838.1:n.3118C>T
NM_001351800.1:c.2540C>T	NP_001338729.1:p.Ser847Phe
NR_147784.1:n.2744C>T
XM_011522479.2:c.2849C>T	XP_011520781.1:p.Ser950Phe
XM_011522481.3:c.2540C>T	XP_011520783.1:p.Ser847Phe
XM_017023212.1:c.2714C>T	XP_016878701.1:p.Ser905Phe
XM_017023214.1:c.2882C>T	XP_016878703.1:p.Ser961Phe
XM_024450261.1:c.2918C>T	XP_024306029.1:p.Ser973Phe
XR_932836.2:n.3063C>T
XR_932837.3:n.3063C>T
XR_932838.3:n.3063C>T
NM_001171.6:c.2882C>T MANE Select	NP_001162.5:p.Ser961Phe