Canonical Allele Identifier: CA7925766

Gene: ABCC6

Linked Data

• ClinVar Variation Id: 2137791
• ClinVar RCV Id: RCV003064327
• dbSNP Id: rs190557767
• ExAC: 16:16263649 G / A
• gnomAD v2: 16-16263649-G-A
• gnomAD v3: 16-16169792-G-A
• gnomAD v4: 16-16169792-G-A
• MyVariant Identifiers: chr16:g.16263649G>A (hg19) ; chr16:g.16169792G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169792G>A , CM000678.2:g.16169792G>A	GRCh38
NC_000016.9:g.16263649G>A , CM000678.1:g.16263649G>A	GRCh37
NC_000016.8:g.16171150G>A	NCBI36
NG_007558.2:g.58680C>T
NG_007558.3:g.58826C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2849C>T	ENSP00000483331.2:p.Ala950Val
ENST00000205557.12:c.2849C>T MANE Select	ENSP00000205557.7:p.Ala950Val
ENST00000205557.11:c.2849C>T	ENSP00000205557.7:p.Ala950Val
ENST00000456970.6:c.2674C>T	ENSP00000405002.2:n.2674C>T
ENST00000622290.4:c.*58C>T	ENSP00000483331.1:n.*58C>T
NM_001171.5:c.2849C>T	NP_001162.4:p.Ala950Val
XM_011522479.1:c.2816C>T	XP_011520781.1:p.Ala939Val
XM_011522480.1:c.2507C>T	XP_011520782.1:p.Ala836Val
XM_011522481.1:c.2507C>T	XP_011520783.1:p.Ala836Val
XR_932836.1:n.3084C>T
XR_932837.1:n.3085C>T
XR_932838.1:n.3085C>T
NM_001351800.1:c.2507C>T	NP_001338729.1:p.Ala836Val
NR_147784.1:n.2711C>T
XM_011522479.2:c.2816C>T	XP_011520781.1:p.Ala939Val
XM_011522481.3:c.2507C>T	XP_011520783.1:p.Ala836Val
XM_017023212.1:c.2681C>T	XP_016878701.1:p.Ala894Val
XM_017023214.1:c.2849C>T	XP_016878703.1:p.Ala950Val
XM_024450261.1:c.2885C>T	XP_024306029.1:p.Ala962Val
XR_932836.2:n.3030C>T
XR_932837.3:n.3030C>T
XR_932838.3:n.3030C>T
NM_001171.6:c.2849C>T MANE Select	NP_001162.5:p.Ala950Val