Canonical Allele Identifier: CA394884247

Gene: ABCC6

Linked Data

• dbSNP Id: rs1292041903
• gnomAD v2: 16-16263509-G-A
• MyVariant Identifiers: chr16:g.16263509G>A (hg19) ; chr16:g.16169652G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000016.10:g.16169652G>A , CM000678.2:g.16169652G>A	GRCh38
NC_000016.9:g.16263509G>A , CM000678.1:g.16263509G>A	GRCh37
NC_000016.8:g.16171010G>A	NCBI36
NG_007558.2:g.58820C>T
NG_007558.3:g.58966C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000622290.5:c.2989C>T	ENSP00000483331.2:p.Leu997Phe
ENST00000205557.12:c.2989C>T MANE Select	ENSP00000205557.7:p.Leu997Phe
ENST00000205557.11:c.2989C>T	ENSP00000205557.7:p.Leu997Phe
ENST00000456970.6:c.2814C>T	ENSP00000405002.2:n.2814C>T
ENST00000622290.4:c.*198C>T	ENSP00000483331.1:n.*198C>T
NM_001171.5:c.2989C>T	NP_001162.4:p.Leu997Phe
XM_011522479.1:c.2956C>T	XP_011520781.1:p.Leu986Phe
XM_011522480.1:c.2647C>T	XP_011520782.1:p.Leu883Phe
XM_011522481.1:c.2647C>T	XP_011520783.1:p.Leu883Phe
XR_932836.1:n.3224C>T
XR_932837.1:n.3225C>T
XR_932838.1:n.3225C>T
NM_001351800.1:c.2647C>T	NP_001338729.1:p.Leu883Phe
NR_147784.1:n.2851C>T
XM_011522479.2:c.2956C>T	XP_011520781.1:p.Leu986Phe
XM_011522481.3:c.2647C>T	XP_011520783.1:p.Leu883Phe
XM_017023212.1:c.2821C>T	XP_016878701.1:p.Leu941Phe
XM_017023214.1:c.2989C>T	XP_016878703.1:p.Leu997Phe
XM_024450261.1:c.3025C>T	XP_024306029.1:p.Leu1009Phe
XR_932836.2:n.3170C>T
XR_932837.3:n.3170C>T
XR_932838.3:n.3170C>T
NM_001171.6:c.2989C>T MANE Select	NP_001162.5:p.Leu997Phe