Canonical Allele Identifier: CA394878942

Gene: ABCC6

Linked Data

• dbSNP Id: rs1202640706
• gnomAD v2: 16-16253432-C-G
• gnomAD v4: 16-16159575-C-G
• MyVariant Identifiers: chr16:g.16253432C>G (hg19) ; chr16:g.16159575C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16159575C>G , CM000678.2:g.16159575C>G	GRCh38
NC_000016.9:g.16253432C>G , CM000678.1:g.16253432C>G	GRCh37
NC_000016.8:g.16160933C>G	NCBI36
NG_007558.2:g.68897G>C
NG_007558.3:g.69043G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.3642G>C	ENSP00000483331.2:p.Gln1214His
ENST00000205557.12:c.3642G>C MANE Select	ENSP00000205557.7:p.Gln1214His
ENST00000640696.1:c.456G>C	ENSP00000492197.1:p.Gln152His
ENST00000205557.11:c.3642G>C	ENSP00000205557.7:p.Gln1214His
ENST00000456970.6:c.3267G>C	ENSP00000405002.2:n.3267G>C
ENST00000622290.4:c.*851G>C	ENSP00000483331.1:n.*851G>C
NM_001171.5:c.3642G>C	NP_001162.4:p.Gln1214His
XM_011522479.1:c.3609G>C	XP_011520781.1:p.Gln1203His
XM_011522480.1:c.3300G>C	XP_011520782.1:p.Gln1100His
XM_011522481.1:c.3300G>C	XP_011520783.1:p.Gln1100His
XR_932836.1:n.3877G>C
XR_932837.1:n.3678G>C
XR_932838.1:n.3678G>C
XR_933134.1:n.539-206C>G
NM_001351800.1:c.3300G>C	NP_001338729.1:p.Gln1100His
NR_147784.1:n.3304G>C
XM_011522479.2:c.3609G>C	XP_011520781.1:p.Gln1203His
XM_011522481.3:c.3300G>C	XP_011520783.1:p.Gln1100His
XM_017023212.1:c.3474G>C	XP_016878701.1:p.Gln1158His
XM_024450261.1:c.3678G>C	XP_024306029.1:p.Gln1226His
XR_932836.2:n.3823G>C
XR_932837.3:n.3623G>C
XR_932838.3:n.3623G>C
NM_001171.6:c.3642G>C MANE Select	NP_001162.5:p.Gln1214His