Canonical Allele Identifier: CA621207214

Gene: ABCC6

Linked Data

• dbSNP Id: rs1237887445
• gnomAD v2: 16-16263750-C-T
• gnomAD v3: 16-16169893-C-T
• gnomAD v4: 16-16169893-C-T
• MyVariant Identifiers: chr16:g.16263750C>T (hg19) ; chr16:g.16169893C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169893C>T , CM000678.2:g.16169893C>T	GRCh38
NC_000016.9:g.16263750C>T , CM000678.1:g.16263750C>T	GRCh37
NC_000016.8:g.16171251C>T	NCBI36
NG_007558.2:g.58579G>A
NG_007558.3:g.58725G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2788-40G>A	ENSP00000483331.2:n.2788-40G>A
ENST00000205557.12:c.2788-40G>A MANE Select	ENSP00000205557.7:n.2788-40G>A
ENST00000205557.11:c.2788-40G>A	ENSP00000205557.7:n.2788-40G>A
ENST00000456970.6:c.2613-40G>A	ENSP00000405002.2:n.2613-40G>A
ENST00000622290.4:c.2613-40G>A	ENSP00000483331.1:n.2613-40G>A
NM_001171.5:c.2788-40G>A	NP_001162.4:n.2788-40G>A
XM_011522479.1:c.2755-40G>A	XP_011520781.1:n.2755-40G>A
XM_011522480.1:c.2446-40G>A	XP_011520782.1:n.2446-40G>A
XM_011522481.1:c.2446-40G>A	XP_011520783.1:n.2446-40G>A
XR_932836.1:n.3023-40G>A
XR_932837.1:n.3024-40G>A
XR_932838.1:n.3024-40G>A
NM_001351800.1:c.2446-40G>A	NP_001338729.1:n.2446-40G>A
NR_147784.1:n.2650-40G>A
XM_011522479.2:c.2755-40G>A	XP_011520781.1:n.2755-40G>A
XM_011522481.3:c.2446-40G>A	XP_011520783.1:n.2446-40G>A
XM_017023212.1:c.2620-40G>A	XP_016878701.1:n.2620-40G>A
XM_017023214.1:c.2788-40G>A	XP_016878703.1:n.2788-40G>A
XM_024450261.1:c.2824-40G>A	XP_024306029.1:n.2824-40G>A
XR_932836.2:n.2969-40G>A
XR_932837.3:n.2969-40G>A
XR_932838.3:n.2969-40G>A
NM_001171.6:c.2788-40G>A MANE Select	NP_001162.5:n.2788-40G>A