Canonical Allele Identifier: CA394876030

Gene: ABCC6

Linked Data

• dbSNP Id: rs1471042293
• gnomAD v2: 16-16248854-G-A
• gnomAD v4: 16-16154997-G-A
• MyVariant Identifiers: chr16:g.16248854G>A (hg19) ; chr16:g.16154997G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16154997G>A , CM000678.2:g.16154997G>A	GRCh38
NC_000016.9:g.16248854G>A , CM000678.1:g.16248854G>A	GRCh37
NC_000016.8:g.16156355G>A	NCBI36
NG_007558.2:g.73475C>T
NG_007558.3:g.73621C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000576204.6:n.780C>T
ENST00000622290.5:c.*89C>T	ENSP00000483331.2:n.*89C>T
ENST00000205557.12:c.3917C>T MANE Select	ENSP00000205557.7:p.Ser1306Phe
ENST00000640696.1:c.731C>T	ENSP00000492197.1:p.Ser244Phe
ENST00000205557.11:c.3917C>T	ENSP00000205557.7:p.Ser1306Phe
ENST00000456970.6:c.3542C>T	ENSP00000405002.2:n.3542C>T
ENST00000576204.5:n.780C>T
ENST00000622290.4:c.*1126C>T	ENSP00000483331.1:n.*1126C>T
NM_001171.5:c.3917C>T	NP_001162.4:p.Ser1306Phe
XM_011522479.1:c.3884C>T	XP_011520781.1:p.Ser1295Phe
XM_011522480.1:c.3575C>T	XP_011520782.1:p.Ser1192Phe
XM_011522481.1:c.3575C>T	XP_011520783.1:p.Ser1192Phe
XR_932836.1:n.4215C>T
XR_932837.1:n.3953C>T
XR_932838.1:n.4016C>T
XR_933134.1:n.539-4784G>A
NM_001351800.1:c.3575C>T	NP_001338729.1:p.Ser1192Phe
NR_147784.1:n.3579C>T
XM_011522479.2:c.3884C>T	XP_011520781.1:p.Ser1295Phe
XM_011522481.3:c.3575C>T	XP_011520783.1:p.Ser1192Phe
XM_017023212.1:c.3749C>T	XP_016878701.1:p.Ser1250Phe
XM_024450261.1:c.3953C>T	XP_024306029.1:p.Ser1318Phe
XR_932836.2:n.4161C>T
XR_932837.3:n.3898C>T
XR_932838.3:n.3961C>T
NM_001171.6:c.3917C>T MANE Select	NP_001162.5:p.Ser1306Phe